Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.7526852G>T	CA347439	MCOLN1	c.497G>T (p.Cys166Phe) n.577G>T n.459G>T n.318G>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.7526852G=	CA2320962000	MCOLN1	c.497G= (p.Cys166=) n.577G= n.459G= n.318G=	dbSNP

Number of alleles fetched