Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.94378506T>C	CA487621111	SERPINA1	c.1200A>G (p.Glu400=) c.499A>G (n.499A>G)	dbSNP
14	g.94378506T>G	CA127624	SERPINA1	c.1200A>C (p.Glu400Asp) c.499A>C (n.499A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched