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.47408433A>T	CA020604	MSH2	c.244A>T (p.Lys82Ter) c.46A>T (p.Lys16Ter) n.316A>T n.306A>T	ClinVar dbSNP
2	g.47408433A>G	CA346729513	MSH2	c.244A>G (p.Lys82Glu) c.46A>G (p.Lys16Glu) n.316A>G n.306A>G	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched