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
13	g.32339646C>G	CA021968	BRCA2	c.5291C>G (p.Ser1764Ter) c.4922C>G (p.Ser1641Ter) n.5291C>G	ClinVar dbSNP
13	g.32339646C>T	CA387784789	BRCA2	c.5291C>T (p.Ser1764Leu) c.4922C>T (p.Ser1641Leu) n.5291C>T	dbSNP gnomAD v4

Number of alleles fetched