Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
21	g.44286671A>C	CA410423435	AIRE	c.247A>C (p.Lys83Gln) n.408A>C n.416A>C	dbSNP
21	g.44286671A>G	CA116137	AIRE	c.247A>G (p.Lys83Glu) n.408A>G n.416A>G	ClinVar dbSNP gnomAD v4

Number of alleles fetched