Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.70942367G>C	CA254690	SMN1	c.283G>C (p.Gly95Arg) c.274-351G>C (n.274-351G>C)	ClinVar dbSNP
5	g.70942367G=	CA1554171488	SMN1	c.283G= (p.Gly95=) c.274-351G= (n.274-351G=)	dbSNP

Number of alleles fetched