SNP Links for Protein (Select 302191615) - SNP

Links from Protein

Items: 1 to 20 of 189

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Select item 14908306381.

rs1490830638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201485328 (GRCh38)
1:201454456 (GRCh37)
Canonical SPDI:: NC_000001.11:201485327:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201485328C>T, NC_000001.10:g.201454456C>T, NM_004078.3:c.460G>A, NM_004078.2:c.460G>A, NM_001193571.2:c.460G>A, NM_001193571.1:c.460G>A, NM_001193572.2:c.460G>A, NM_001193572.1:c.460G>A, NM_001193570.2:c.442G>A, NM_001193570.1:c.442G>A, NP_004069.1:p.Glu154Lys, NP_001180500.1:p.Glu154Lys, NP_001180501.1:p.Glu154Lys, NP_001180499.1:p.Glu148Lys

Select item 14839586452.

rs1483958645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201485318 (GRCh38)
1:201454446 (GRCh37)
Canonical SPDI:: NC_000001.11:201485317:G:A
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201485318G>A, NC_000001.10:g.201454446G>A, NM_004078.3:c.470C>T, NM_004078.2:c.470C>T, NM_001193571.2:c.470C>T, NM_001193571.1:c.470C>T, NM_001193572.2:c.470C>T, NM_001193572.1:c.470C>T, NM_001193570.2:c.452C>T, NM_001193570.1:c.452C>T, NP_004069.1:p.Thr157Ile, NP_001180500.1:p.Thr157Ile, NP_001180501.1:p.Thr157Ile, NP_001180499.1:p.Thr151Ile

Select item 14812450213.

rs1481245021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:201490330 (GRCh38)
1:201459458 (GRCh37)
Canonical SPDI:: NC_000001.11:201490329:T:A,NC_000001.11:201490329:T:G
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201490330T>A, NC_000001.11:g.201490330T>G, NC_000001.10:g.201459458T>A, NC_000001.10:g.201459458T>G, NM_004078.3:c.127A>T, NM_004078.3:c.127A>C, NM_004078.2:c.127A>T, NM_004078.2:c.127A>C, NM_001193571.2:c.127A>T, NM_001193571.2:c.127A>C, NM_001193571.1:c.127A>T, NM_001193571.1:c.127A>C, NM_001193572.2:c.127A>T, NM_001193572.2:c.127A>C, NM_001193572.1:c.127A>T, NM_001193572.1:c.127A>C, NM_001193570.2:c.127A>T, NM_001193570.2:c.127A>C, NM_001193570.1:c.127A>T, NM_001193570.1:c.127A>C, NM_001144773.1:c.127A>T, NM_001144773.1:c.127A>C, NP_004069.1:p.Asn43Tyr, NP_004069.1:p.Asn43His, NP_001180500.1:p.Asn43Tyr, NP_001180500.1:p.Asn43His, NP_001180501.1:p.Asn43Tyr, NP_001180501.1:p.Asn43His, NP_001180499.1:p.Asn43Tyr, NP_001180499.1:p.Asn43His

Select item 14802657444.

rs1480265744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201488906 (GRCh38)
1:201458034 (GRCh37)
Canonical SPDI:: NC_000001.11:201488905:G:A
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201488906G>A, NC_000001.10:g.201458034G>A, NM_004078.3:c.360C>T, NM_004078.2:c.360C>T, NM_001193571.2:c.360C>T, NM_001193571.1:c.360C>T, NM_001193572.2:c.360C>T, NM_001193572.1:c.360C>T, NM_001193570.2:c.360C>T, NM_001193570.1:c.360C>T, NM_001144773.1:c.360C>T

Select item 14724608055.

rs1472460805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:201490232 (GRCh38)
1:201459360 (GRCh37)
Canonical SPDI:: NC_000001.11:201490231:C:G
Gene:: CSRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201490232C>G, NC_000001.10:g.201459360C>G, NM_004078.3:c.225G>C, NM_004078.2:c.225G>C, NM_001193571.2:c.225G>C, NM_001193571.1:c.225G>C, NM_001193572.2:c.225G>C, NM_001193572.1:c.225G>C, NM_001193570.2:c.225G>C, NM_001193570.1:c.225G>C, NM_001144773.1:c.225G>C, NP_004069.1:p.Gln75His, NP_001180500.1:p.Gln75His, NP_001180501.1:p.Gln75His, NP_001180499.1:p.Gln75His

Select item 14657142706.

rs1465714270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201488957 (GRCh38)
1:201458085 (GRCh37)
Canonical SPDI:: NC_000001.11:201488956:G:A
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.201488957G>A, NC_000001.10:g.201458085G>A, NM_004078.3:c.309C>T, NM_004078.2:c.309C>T, NM_001193571.2:c.309C>T, NM_001193571.1:c.309C>T, NM_001193572.2:c.309C>T, NM_001193572.1:c.309C>T, NM_001193570.2:c.309C>T, NM_001193570.1:c.309C>T, NM_001144773.1:c.309C>T

Select item 14588421387.

rs1458842138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201496232 (GRCh38)
1:201465360 (GRCh37)
Canonical SPDI:: NC_000001.11:201496231:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201496232C>T, NC_000001.10:g.201465360C>T, NM_004078.3:c.72G>A, NM_004078.2:c.72G>A, NM_001193571.2:c.72G>A, NM_001193571.1:c.72G>A, NM_001193572.2:c.72G>A, NM_001193572.1:c.72G>A, NM_001193570.2:c.72G>A, NM_001193570.1:c.72G>A, NM_001144773.1:c.72G>A

Select item 14576255478.

rs1457625547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:201496294 (GRCh38)
1:201465422 (GRCh37)
Canonical SPDI:: NC_000001.11:201496293:A:C
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201496294A>C, NC_000001.10:g.201465422A>C, NM_004078.3:c.10T>G, NM_004078.2:c.10T>G, NM_001193571.2:c.10T>G, NM_001193571.1:c.10T>G, NM_001193572.2:c.10T>G, NM_001193572.1:c.10T>G, NM_001193570.2:c.10T>G, NM_001193570.1:c.10T>G, NM_001144773.1:c.10T>G, NP_004069.1:p.Trp4Gly, NP_001180500.1:p.Trp4Gly, NP_001180501.1:p.Trp4Gly, NP_001180499.1:p.Trp4Gly

Select item 14415686449.

rs1441568644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:201490312 (GRCh38)
1:201459440 (GRCh37)
Canonical SPDI:: NC_000001.11:201490311:C:G,NC_000001.11:201490311:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.201490312C>G, NC_000001.11:g.201490312C>T, NC_000001.10:g.201459440C>G, NC_000001.10:g.201459440C>T, NM_004078.3:c.145G>C, NM_004078.3:c.145G>A, NM_004078.2:c.145G>C, NM_004078.2:c.145G>A, NM_001193571.2:c.145G>C, NM_001193571.2:c.145G>A, NM_001193571.1:c.145G>C, NM_001193571.1:c.145G>A, NM_001193572.2:c.145G>C, NM_001193572.2:c.145G>A, NM_001193572.1:c.145G>C, NM_001193572.1:c.145G>A, NM_001193570.2:c.145G>C, NM_001193570.2:c.145G>A, NM_001193570.1:c.145G>C, NM_001193570.1:c.145G>A, NM_001144773.1:c.145G>C, NM_001144773.1:c.145G>A, NP_004069.1:p.Val49Leu, NP_004069.1:p.Val49Met, NP_001180500.1:p.Val49Leu, NP_001180500.1:p.Val49Met, NP_001180501.1:p.Val49Leu, NP_001180501.1:p.Val49Met, NP_001180499.1:p.Val49Leu, NP_001180499.1:p.Val49Met

Select item 143940847510.

rs1439408475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:201496225 (GRCh38)
1:201465353 (GRCh37)
Canonical SPDI:: NC_000001.11:201496224:C:G
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201496225C>G, NC_000001.10:g.201465353C>G, NM_004078.3:c.79G>C, NM_004078.2:c.79G>C, NM_001193571.2:c.79G>C, NM_001193571.1:c.79G>C, NM_001193572.2:c.79G>C, NM_001193572.1:c.79G>C, NM_001193570.2:c.79G>C, NM_001193570.1:c.79G>C, NM_001144773.1:c.79G>C, NP_004069.1:p.Gly27Arg, NP_001180500.1:p.Gly27Arg, NP_001180501.1:p.Gly27Arg, NP_001180499.1:p.Gly27Arg

Select item 143847886911.

rs1438478869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:201484747 (GRCh38)
1:201453875 (GRCh37)
Canonical SPDI:: NC_000001.11:201484746:C:G
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201484747C>G, NC_000001.10:g.201453875C>G, NM_004078.3:c.548G>C, NM_004078.2:c.548G>C, NM_001193571.2:c.548G>C, NM_001193571.1:c.548G>C, NM_001193572.2:c.548G>C, NM_001193572.1:c.548G>C, NM_001193570.2:c.530G>C, NM_001193570.1:c.530G>C, NP_004069.1:p.Gly183Ala, NP_001180500.1:p.Gly183Ala, NP_001180501.1:p.Gly183Ala, NP_001180499.1:p.Gly177Ala

Select item 143824929912.

rs1438249299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:201496288 (GRCh38)
1:201465416 (GRCh37)
Canonical SPDI:: NC_000001.11:201496287:C:G,NC_000001.11:201496287:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.201496288C>G, NC_000001.11:g.201496288C>T, NC_000001.10:g.201465416C>G, NC_000001.10:g.201465416C>T, NM_004078.3:c.16G>C, NM_004078.3:c.16G>A, NM_004078.2:c.16G>C, NM_004078.2:c.16G>A, NM_001193571.2:c.16G>C, NM_001193571.2:c.16G>A, NM_001193571.1:c.16G>C, NM_001193571.1:c.16G>A, NM_001193572.2:c.16G>C, NM_001193572.2:c.16G>A, NM_001193572.1:c.16G>C, NM_001193572.1:c.16G>A, NM_001193570.2:c.16G>C, NM_001193570.2:c.16G>A, NM_001193570.1:c.16G>C, NM_001193570.1:c.16G>A, NM_001144773.1:c.16G>C, NM_001144773.1:c.16G>A, NP_004069.1:p.Gly6Arg, NP_004069.1:p.Gly6Arg, NP_001180500.1:p.Gly6Arg, NP_001180500.1:p.Gly6Arg, NP_001180501.1:p.Gly6Arg, NP_001180501.1:p.Gly6Arg, NP_001180499.1:p.Gly6Arg, NP_001180499.1:p.Gly6Arg

Select item 143094355113.

rs1430943551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:201485338 (GRCh38)
1:201454466 (GRCh37)
Canonical SPDI:: NC_000001.11:201485337:G:A,NC_000001.11:201485337:G:C
Gene:: CSRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201485338G>A, NC_000001.11:g.201485338G>C, NC_000001.10:g.201454466G>A, NC_000001.10:g.201454466G>C, NM_004078.3:c.450C>T, NM_004078.3:c.450C>G, NM_004078.2:c.450C>T, NM_004078.2:c.450C>G, NM_001193571.2:c.450C>T, NM_001193571.2:c.450C>G, NM_001193571.1:c.450C>T, NM_001193571.1:c.450C>G, NM_001193572.2:c.450C>T, NM_001193572.2:c.450C>G, NM_001193572.1:c.450C>T, NM_001193572.1:c.450C>G, NM_001193570.2:c.432C>T, NM_001193570.2:c.432C>G, NM_001193570.1:c.432C>T, NM_001193570.1:c.432C>G

Select item 142591668114.

rs1425916681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201485349 (GRCh38)
1:201454477 (GRCh37)
Canonical SPDI:: NC_000001.11:201485348:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201485349C>T, NC_000001.10:g.201454477C>T, NM_004078.3:c.439G>A, NM_004078.2:c.439G>A, NM_001193571.2:c.439G>A, NM_001193571.1:c.439G>A, NM_001193572.2:c.439G>A, NM_001193572.1:c.439G>A, NM_001193570.2:c.421G>A, NM_001193570.1:c.421G>A, NP_004069.1:p.Ala147Thr, NP_001180500.1:p.Ala147Thr, NP_001180501.1:p.Ala147Thr, NP_001180499.1:p.Ala141Thr

Select item 142081133715.

rs1420811337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:201490328 (GRCh38)
1:201459456 (GRCh37)
Canonical SPDI:: NC_000001.11:201490327:A:C
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201490328A>C, NC_000001.10:g.201459456A>C, NM_004078.3:c.129T>G, NM_004078.2:c.129T>G, NM_001193571.2:c.129T>G, NM_001193571.1:c.129T>G, NM_001193572.2:c.129T>G, NM_001193572.1:c.129T>G, NM_001193570.2:c.129T>G, NM_001193570.1:c.129T>G, NM_001144773.1:c.129T>G, NP_004069.1:p.Asn43Lys, NP_001180500.1:p.Asn43Lys, NP_001180501.1:p.Asn43Lys, NP_001180499.1:p.Asn43Lys

Select item 141978985016.

rs1419789850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:201496243 (GRCh38)
1:201465371 (GRCh37)
Canonical SPDI:: NC_000001.11:201496242:C:G,NC_000001.11:201496242:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.201496243C>G, NC_000001.11:g.201496243C>T, NC_000001.10:g.201465371C>G, NC_000001.10:g.201465371C>T, NM_004078.3:c.61G>C, NM_004078.3:c.61G>A, NM_004078.2:c.61G>C, NM_004078.2:c.61G>A, NM_001193571.2:c.61G>C, NM_001193571.2:c.61G>A, NM_001193571.1:c.61G>C, NM_001193571.1:c.61G>A, NM_001193572.2:c.61G>C, NM_001193572.2:c.61G>A, NM_001193572.1:c.61G>C, NM_001193572.1:c.61G>A, NM_001193570.2:c.61G>C, NM_001193570.2:c.61G>A, NM_001193570.1:c.61G>C, NM_001193570.1:c.61G>A, NM_001144773.1:c.61G>C, NM_001144773.1:c.61G>A, NP_004069.1:p.Glu21Gln, NP_004069.1:p.Glu21Lys, NP_001180500.1:p.Glu21Gln, NP_001180500.1:p.Glu21Lys, NP_001180501.1:p.Glu21Gln, NP_001180501.1:p.Glu21Lys, NP_001180499.1:p.Glu21Gln, NP_001180499.1:p.Glu21Lys

Select item 141203817917.

rs1412038179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201496235 (GRCh38)
1:201465363 (GRCh37)
Canonical SPDI:: NC_000001.11:201496234:A:G
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.201496235A>G, NC_000001.10:g.201465363A>G, NM_004078.3:c.69T>C, NM_004078.2:c.69T>C, NM_001193571.2:c.69T>C, NM_001193571.1:c.69T>C, NM_001193572.2:c.69T>C, NM_001193572.1:c.69T>C, NM_001193570.2:c.69T>C, NM_001193570.1:c.69T>C, NM_001144773.1:c.69T>C

Select item 141007817618.

rs1410078176 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:201484774 (GRCh38)
1:201453902 (GRCh37)
Canonical SPDI:: NC_000001.11:201484773:TTTTT:TTTT
Gene:: CSRP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.201484778del, NC_000001.10:g.201453906del, NM_004078.3:c.521del, NM_004078.2:c.521del, NM_001193571.2:c.521del, NM_001193571.1:c.521del, NM_001193572.2:c.521del, NM_001193572.1:c.521del, NM_001193570.2:c.503del, NM_001193570.1:c.503del, NP_004069.1:p.Asn174fs, NP_001180500.1:p.Asn174fs, NP_001180501.1:p.Asn174fs, NP_001180499.1:p.Asn168fs

Select item 138865685919.

rs1388656859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201496237 (GRCh38)
1:201465365 (GRCh37)
Canonical SPDI:: NC_000001.11:201496236:C:T
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201496237C>T, NC_000001.10:g.201465365C>T, NM_004078.3:c.67G>A, NM_004078.2:c.67G>A, NM_001193571.2:c.67G>A, NM_001193571.1:c.67G>A, NM_001193572.2:c.67G>A, NM_001193572.1:c.67G>A, NM_001193570.2:c.67G>A, NM_001193570.1:c.67G>A, NM_001144773.1:c.67G>A, NP_004069.1:p.Val23Ile, NP_001180500.1:p.Val23Ile, NP_001180501.1:p.Val23Ile, NP_001180499.1:p.Val23Ile

Select item 138495594720.

rs1384955947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201496258 (GRCh38)
1:201465386 (GRCh37)
Canonical SPDI:: NC_000001.11:201496257:T:C
Gene:: CSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.201496258T>C, NC_000001.10:g.201465386T>C, NM_004078.3:c.46A>G, NM_004078.2:c.46A>G, NM_001193571.2:c.46A>G, NM_001193571.1:c.46A>G, NM_001193572.2:c.46A>G, NM_001193572.1:c.46A>G, NM_001193570.2:c.46A>G, NM_001193570.1:c.46A>G, NM_001144773.1:c.46A>G, NP_004069.1:p.Thr16Ala, NP_001180500.1:p.Thr16Ala, NP_001180501.1:p.Thr16Ala, NP_001180499.1:p.Thr16Ala

dbSNP

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