Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.65334996C>T	CA3877631	EYS	c.1750G>A (p.Glu584Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6	g.65334996C>A	CA270051	EYS	c.1750G>T (p.Glu584Ter)	ClinVar dbSNP gnomAD v4

Number of alleles fetched