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: PA229472

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102618

ClinVar RCV Id: RCV000088860 RCV001199974

ClinVar Variation Id: 120269

ClinVar RCV Id: RCV000106350

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Asn61Lys	CA229471 NM_000277.3:c.183C>G CA267644 NM_000277.3:c.183C>A