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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALAS2
(L353V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC108663984, ALAS2
Single nucleotide variant
(splice donor variant)
X-linked erythropoietic protoporphyria
GLikely pathogenic