Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189352C>T	CA274460	GJB2	c.230G>A (p.Trp77Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189352C>G	CA387461578	GJB2	c.230G>C (p.Trp77Ser)	dbSNP
13	g.20189352C=	CA2077139937	GJB2	c.230G= (p.Trp77=)	dbSNP

Number of alleles fetched