Allele Registry

Canonical Allele Identifier: PA916037353

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000664768

RCV002265840

ClinVar Variation:

550122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Thr22Lys	CA6749049 NM_001354304.2:c.65C>A