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: PA108306

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 420074

ClinVar RCV Id: RCV000482784 RCV002525827

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000542.1:p.Asn131Lys	CA16617789 NM_000551.4:c.393C>A CA351753948 NM_000551.4:c.393C>G