Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.50914748G>A	CA341908	PYGL	c.1471C>T (p.Arg491Cys) c.1369C>T (p.Arg457Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.50914748G=	CA2136418879	PYGL	c.1471C= (p.Arg491=) c.1369C= (p.Arg457=)	dbSNP

Number of alleles fetched