Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.5234034T>C	CA217123820	HBD	c.272A>G (p.Glu91Gly) c.92+308A>G (n.92+308A>G)	dbSNP
11	g.5234034T>A	CA124647	HBD	c.272A>T (p.Glu91Val) c.92+308A>T (n.92+308A>T)	ClinVar dbSNP gnomAD v4

Number of alleles fetched