Canonical Allele Identifier: PA916037598
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102821
ClinVar RCV Id: RCV000089076 RCV000153634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu249Phe
CA273356
NM_001354304.2:c.745C>T