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: PA645462850

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411978

ClinVar RCV Id: RCV000464337 RCV001016453

ClinVar Variation Id: 821712

ClinVar RCV Id: RCV001016401

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000542.1:p.Phe91Leu	CA16611270 NM_000551.4:c.273C>A CA351750722 NM_000551.4:c.271T>C CA351750747 NM_000551.4:c.273C>G