Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.149980954A>C	CA116646	SLC26A2	c.1361A>C (p.Gln454Pro) c.372+2603A>C (n.372+2603A>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
5	g.149980954A=	CA1590738589	SLC26A2	c.1361A= (p.Gln454=) c.372+2603A= (n.372+2603A=)	dbSNP

Number of alleles fetched