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: PA658825312

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 558612

ClinVar RCV Id: RCV000674910

ClinVar Variation Id: 2036025

ClinVar RCV Id: RCV002894650

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.His290Gln	CA16020878 NM_000277.3:c.870T>G CA386294406 NM_000277.3:c.870T>A