Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA916037587

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102810

ClinVar RCV Id: RCV000089063 RCV000340479

ClinVar Variation Id: 2503911

ClinVar RCV Id: RCV003230902

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val245Leu	CA229724 NM_001354304.2:c.733G>C CA386295775 NM_001354304.2:c.733G>T CA2580614529 NM_001354304.2:c.733_735delinsCTA