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: PA2499252050

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1034798

ClinVar RCV Id: RCV001337572

ClinVar Variation Id: 1550054

ClinVar RCV Id: RCV002189562

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Gly161Arg	CA1345067404 NM_001354723.2:c.481G>A CA2573136122 NM_001354723.2:c.481G>C