Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA357080

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223171

ClinVar RCV Id: RCV000208827 RCV000492552 RCV000537014

ClinVar Variation Id: 580847

ClinVar RCV Id: RCV000704506

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000542.1:p.Trp88Cys	CA357078 NM_000551.4:c.264G>T CA351750678 NM_000551.4:c.264G>C