Allele Registry

Canonical Allele Identifier: PA916037484

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000111461

ClinVar Variation:

125436

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg169Cys	CA267693 NM_001354304.2:c.505C>T