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
3	g.10142041C>T	CA020104	VHL	c.194C>T (p.Ser65Leu)	ClinVar dbSNP gnomAD v2 COSMIC
3	g.10142041C>A	CA357085	VHL	c.194C>A (p.Ser65Ter)	ClinVar dbSNP COSMIC
3	g.10142041C>G	CA020099	VHL	c.194C>G (p.Ser65Trp)	ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched