Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.12296022G>T	CA126756	EDN1	c.594G>T (p.Lys198Asn) c.591G>T (p.Lys197Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12296022G=	CA1610830931	EDN1	c.594G= (p.Lys198=) c.591G= (p.Lys197=)	dbSNP

Number of alleles fetched