Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
7	g.94418518G>T	CA368223021	COL1A2	c.1991G>T (p.Gly664Val) n.80G>T n.328G>T n.388G>T c.1985G>T (p.Gly662Val)	ClinVar dbSNP COSMIC
7	g.94418518G>A	CA260348	COL1A2	c.1991G>A (p.Gly664Asp) n.80G>A n.328G>A n.388G>A c.1985G>A (p.Gly662Asp)	ClinVar dbSNP

Number of alleles fetched