Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20188984C>T	CA357244	GJB2	c.598G>A (p.Gly200Arg)	ClinVar dbSNP
13	g.20188984C>A	CA274205	GJB2	c.598G>T (p.Gly200Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188984C=	CA2077138753	GJB2	c.598G= (p.Gly200=)	dbSNP

Number of alleles fetched