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
8	g.125055601C>T	CA372190112	WASHC5	c.2087G>A (p.Gly696Asp) c.1643G>A (p.Gly548Asp)	ClinVar dbSNP
8	g.125055601C>G	CA345045	WASHC5	c.2087G>C (p.Gly696Ala) c.1643G>C (p.Gly548Ala)	ClinVar dbSNP

Number of alleles fetched