Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189358C>T	CA127030	GJB2	c.224G>A (p.Arg75Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189358C=	CA2077139956	GJB2	c.224G= (p.Arg75=)	dbSNP
13	g.20189358C>G	CA387461586	GJB2	c.224G>C (p.Arg75Pro)	dbSNP

Number of alleles fetched