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.10142080A>G	CA020131	VHL	c.233A>G (p.Asn78Ser)	ClinVar dbSNP COSMIC
3	g.10142080A>T	CA357063	VHL	c.233A>T (p.Asn78Ile)	ClinVar dbSNP COSMIC
3	g.10142080A>C	CA357095	VHL	c.233A>C (p.Asn78Thr)	ClinVar dbSNP COSMIC

Number of alleles fetched