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
20	g.10649544C>T	CA274929	JAG1	c.1326G>A (p.Trp442Ter) n.1915G>A n.1192G>A n.45G>A c.103G>A	ClinVar dbSNP
20	g.10649544C>A	CA408238134	JAG1	c.1326G>T (p.Trp442Cys) n.1915G>T n.1192G>T n.45G>T c.103G>T	ClinVar dbSNP

Number of alleles fetched