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: PA2827926676

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2949244

ClinVar RCV Id: RCV003801970

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Met54Ile	CA351748478 NM_001354723.2:c.162G>A CA351748485 NM_001354723.2:c.162G>C CA351748488 NM_001354723.2:c.162G>T