Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2828939056

Gene: HFE HGNC NCBI

Linked Data

ClinVar Variation Id: 2321224

ClinVar RCV Id: RCV002893674

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371093.1:p.Lys211Asn	CA363207587 NM_001384164.1:c.633G>C CA363207589 NM_001384164.1:c.633G>T