Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.319825C>G	CA351420525	CHL1	c.49C>G (p.Leu17Val) c.387C>G (n.387C>G) n.22C>G	dbSNP
3	g.319825C>T	CA2224186	CHL1	c.49C>T (p.Leu17Phe) c.387C>T (n.387C>T) n.22C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched