Allele Registry

Canonical Allele Identifier: PA916037598

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089076

RCV000153634

ClinVar Variation:

102821

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu249Phe	CA273356 NM_001354304.2:c.745C>T