Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.149981737C>T	CA252994	SLC26A2	c.2144C>T (p.Ala715Val) c.372+3386C>T (n.372+3386C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.149981737C>A	CA361709911	SLC26A2	c.2144C>A (p.Ala715Glu) c.372+3386C>A (n.372+3386C>A)	dbSNP

Number of alleles fetched