Canonical Allele Identifier: PA916037356
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 605
ClinVar RCV Id: RCV000000636 RCV000078504 RCV004018527 RCV003904791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe39Leu
CA251537
NM_001354304.2:c.117C>G
CA386302494
NM_001354304.2:c.117C>A
CA386302507
NM_001354304.2:c.115T>C