Allele Registry

Canonical Allele Identifier: PA916037434

Gene: PAH HGNC NCBI

ClinVar Allele:

265254

ClinVar RCV:

RCV000385558

RCV002519074

ClinVar Variation:

281017

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro119Leu	CA6748965 NM_001354304.2:c.356C>T