Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.74484420G>T	CA390532242	NPC2	c.358C>A (p.Pro120Thr) c.158+1909C>A (n.158+1909C>A) c.423C>A	ClinVar dbSNP gnomAD v4
14	g.74484420G>A	CA254414	NPC2	c.358C>T (p.Pro120Ser) c.158+1909C>T (n.158+1909C>T) c.423C>T	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched