Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.63762613C>T	CA270065	EYS,PHF3	c.7919G>A (p.Trp2640Ter) c.1233G>A c.364-15453C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63762613C=	CA1633404418	EYS,PHF3	c.7919G= (p.Trp2640=) c.1233G= c.364-15453C=	dbSNP

Number of alleles fetched