Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA916037804

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 193805

ClinVar RCV Id: RCV000173991

ClinVar Variation Id: 1470778

ClinVar RCV Id: RCV001964349

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Tyr386His	CA239463 NM_001354304.2:c.1156T>C CA2573147924 NM_001354304.2:c.1155_1156delinsGC