Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50524255G>C	CA412193856	NCAPH2,SCO2	c.157C>G (p.Gln53Glu) c.880G>C (n.880G>C) n.2908G>C	dbSNP
22	g.50524255G>A	CA117673	NCAPH2,SCO2	c.157C>T (p.Gln53Ter) c.880G>A (n.880G>A) n.2908G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched