Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.68838684C>G	CA413437403	EFNB1	c.196C>G (p.Arg66Gly)	dbSNP gnomAD v3 gnomAD v4
X	g.68838684C>T	CA121642	EFNB1	c.196C>T (p.Arg66Ter)	ClinVar dbSNP
X	g.68838684C=	CA2435563867	EFNB1	c.196C= (p.Arg66=)	dbSNP

Number of alleles fetched