Allele Registry

Canonical Allele Identifier: PA916037578

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089055

RCV000576386

RCV003343638

ClinVar Variation:

102804

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg241His	CA286507 NM_001354304.2:c.722G>A