Canonical Allele Identifier: PA106342
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro244Leu
CA229721
NM_000277.3:c.731C>T