Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.54902489G>C	CA7193669	GCH1	c.175C>G (p.Arg59Gly) n.323C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.54902489G>A	CA389794070	GCH1	c.175C>T (p.Arg59Cys) n.323C>T	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched