Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.133369905G>A	CA278768	ECHS1	c.413C>T (p.Ala138Val) n.476C>T	ClinVar dbSNP COSMIC
10	g.133369905G>T	CA378821136	ECHS1	c.413C>A (p.Ala138Asp) n.476C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched