Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.50198177C>A	CA400225592	COL1A1	c.572G>T (p.Gly191Val) n.299G>T	ClinVar dbSNP
17	g.50198177C>T	CA127151	COL1A1	c.572G>A (p.Gly191Asp) n.299G>A	ClinVar dbSNP
17	g.50198177C>G	CA127143	COL1A1	c.572G>C (p.Gly191Ala) n.299G>C	ClinVar dbSNP

Number of alleles fetched