Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.67726084C>T	CA115315	GPHN,RDH12	c.377C>T (p.Ala126Val) c.1313-9111C>T (n.1313-9111C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.67726084C>A	CA390150075	GPHN,RDH12	c.377C>A (p.Ala126Glu) c.1313-9111C>A (n.1313-9111C>A)	ClinVar dbSNP gnomAD v4

Number of alleles fetched