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)

1282

major update running

 

DATABASE MANAGERS

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 (https://mutalyzer.nl/check). Sequence variants are compliant with the HGVS rules (http://www.hgvs.org/mutnomen/).