Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.240873031del	CA275842	AGXT	c.577del (p.Leu193PhefsTer19) n.597del n.314del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.240873031dup	CA275843	AGXT	c.577dup (p.Leu193ProfsTer?) n.597dup n.314dup	ClinVar dbSNP gnomAD v4

Number of alleles fetched