Allele Registry

Canonical Allele Identifier: PA916037659

Gene: PAH HGNC NCBI

ClinVar Allele:

204455

ClinVar RCV:

RCV000190377

ClinVar Variation:

208181

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro279Leu	CA275939 NM_001354304.2:c.836C>T CA645584082 NM_001354304.2:c.836_837delinsTT