Allele Registry

Canonical Allele Identifier: PA916037738

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000655

RCV000089195

RCV002259565

ClinVar Variation:

624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu333Phe	CA114366 NM_001354304.2:c.997C>T