Canonical Allele Identifier: PA916037649
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102855
ClinVar RCV Id: RCV000089116 RCV000670910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro275Leu
CA229793
NM_001354304.2:c.824C>T