Allele Registry

Canonical Allele Identifier: PA916037696

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000436688

ClinVar Variation:

379788

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gln301Lys	CA16606056 NM_001354304.2:c.901C>A