Canonical Allele Identifier: PA916037584
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro244Leu
CA229721
NM_001354304.2:c.731C>T