Allele Registry

Canonical Allele Identifier: PA916037768

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000646

RCV000078499

ClinVar Variation:

615

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser349Pro	CA251542 NM_001354304.2:c.1045T>C