Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50627374C>A	CA412181784	ARSA	c.257G>T (p.Arg86Leu) c.-2G>T (n.-2G>T) n.648G>T	ClinVar dbSNP gnomAD v4 COSMIC
22	g.50627374C>T	CA115965	ARSA	c.257G>A (p.Arg86Gln) c.-2G>A (n.-2G>A) n.648G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched