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: PA106838

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102810

ClinVar RCV Id: RCV000089063 RCV000340479

ClinVar Variation Id: 2503911

ClinVar RCV Id: RCV003230902

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Val245Leu	CA229724 NM_000277.3:c.733G>C CA386295775 NM_000277.3:c.733G>T CA2580614529 NM_000277.3:c.733_735delinsCTA