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: PA1139734592

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 948841

ClinVar RCV Id: RCV001220178

ClinVar Variation Id: 1003280

ClinVar RCV Id: RCV001299813

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Cys174Ser	CA1139655744 NM_001354723.2:c.521G>C CA1345067486 NM_001354723.2:c.520T>A