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
2	g.47414357_47414358del	CA022473	MSH2	c.881_882del (p.Phe294Ter) c.683_684del (p.Phe228Ter) n.953_954del n.943_944del	ClinVar dbSNP
2	g.47414358del	CA913187894	MSH2	c.882del (p.Phe294LeufsTer7) c.684del (p.Phe228LeufsTer7) n.954del n.944del	ClinVar dbSNP

Number of alleles fetched