Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.68440997C>A	CA226557	RPE65	c.499G>T (p.Asp167Tyr) c.223G>T (p.Asp75Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.68440997C>T	CA340747228	RPE65	c.499G>A (p.Asp167Asn) c.223G>A (p.Asp75Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched