Allele Registry

Canonical Allele Identifier: PA916037359

Gene: PAH HGNC NCBI

ClinVar Allele:

108309

ClinVar RCV:

RCV000088809

RCV001093507

ClinVar Variation:

102573

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu41Pro	CA229408 NM_001354304.2:c.122T>C