Allele Registry

Canonical Allele Identifier: PA916037709

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000608

RCV000089164

ClinVar Variation:

578

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu311Pro	CA251524 NM_001354304.2:c.932T>C