Allele Registry

Canonical Allele Identifier: PA1139742183

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001269317

ClinVar Variation:

987911

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Tyr317His	CA16020903 NM_001354304.2:c.949T>C