Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
15	g.43082648T>C	CA117012	UBR1	c.407A>G (p.His136Arg) c.54A>G (n.54A>G)	ClinVar dbSNP gnomAD v4
15	g.43082648T>A	CA392084312	UBR1	c.407A>T (p.His136Leu) c.54A>T (n.54A>T)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched