Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.166405843C>G	CA1944980	SCN7A	c.4786G>C (p.Val1596Leu) c.2591G>C (n.2591G>C) n.5010G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.166405843C=	CA1305024115	SCN7A	c.4786G= (p.Val1596=) c.2591G= (n.2591G=) n.5010G=	dbSNP

Number of alleles fetched