Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50195958C>A	CA260264	COL1A1	c.1021G>T (p.Gly341Cys) c.957+356G>T (n.957+356G>T)	ClinVar dbSNP gnomAD v4
17	g.50195958C=	CA2263919000	COL1A1	c.1021G= (p.Gly341=) c.957+356G= (n.957+356G=)	dbSNP

Number of alleles fetched