Allele Registry

Canonical Allele Identifier: PA916037504

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000078526

RCV000150087

RCV004019528

ClinVar Variation:

92746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu178Gly	CA273110 NM_001354304.2:c.533A>G