Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.70942430A>T	CA254696	SMN1	c.346A>T (p.Ile116Phe) c.274-288A>T (n.274-288A>T)	ClinVar dbSNP
5	g.70942430A=	CA1554171492	SMN1	c.346A= (p.Ile116=) c.274-288A= (n.274-288A=)	dbSNP

Number of alleles fetched