Canonical Allele Identifier: PA916037517
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102742
ClinVar RCV Id: RCV000088991 RCV000411842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu194Pro
CA229633
NM_001354304.2:c.581T>C