Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.68438293A>G	CA226472	RPE65	c.1022T>C (p.Leu341Ser) c.746T>C (p.Leu249Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.68438293A=	CA1140725761	RPE65	c.1022T= (p.Leu341=) c.746T= (p.Leu249=)	dbSNP

Number of alleles fetched