Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.133373332A>C	CA214804	ECHS1	c.2T>G (p.Met1Arg) n.65T>G	ClinVar dbSNP gnomAD v4
10	g.133373332A>G	CA378824567	ECHS1	c.2T>C (p.Met1Thr) n.65T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched