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: PA916037735

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102925

ClinVar RCV Id: RCV000089192

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe331Leu	CA229894 NM_001354304.2:c.991T>C CA386493488 NM_001354304.2:c.993T>G CA386493489 NM_001354304.2:c.993T>A