Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.5234026A>T	CA379276784	HBD	c.280T>A (p.Cys94Ser) c.92+316T>A (n.92+316T>A)	dbSNP
11	g.5234026A>C	CA124693	HBD	c.280T>G (p.Cys94Gly) c.92+316T>G (n.92+316T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched