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: PA106179

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102859

ClinVar RCV Id: RCV000089120 RCV001543637

ClinVar Variation Id: 551519

ClinVar RCV Id: RCV000666601

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Met276Ile	CA229799 NM_000277.3:c.828G>T CA386294546 NM_000277.3:c.828G>C CA386294547 NM_000277.3:c.828G>A