PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

PAHvdb : Phenylalanine Hydroxylase Gene Locus-Specific Database

PAH Gene Card (The Human Gene Compedium)




Current number of PAH variants

(as of June 18, 2021)


major update running



Nenad Blau, Zurich, Switzerland

Wyatt Yue, Oxford, UK

Belen Perez, Madrid, Spain


The reference accession number for the PAH sequence is ENSG00000171759; NC_000012.12(NM_000277.2). All variants were checked with Mutalyzer 2.0.beta-27 ( Sequence variants are compliant with the HGVS rules (