Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.35910427C>A	CA359429864	CAPSL	c.254G>T (p.Arg85Leu) c.305G>T (p.Arg102Leu)	dbSNP
5	g.35910427C>T	CA3232388	CAPSL	c.254G>A (p.Arg85Gln) c.305G>A (p.Arg102Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched