Allele Registry

Canonical Allele Identifier: PA2573206243

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV002014335

ClinVar Variation:

1511080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala313Glu	CA386291666 NM_001354304.2:c.938C>A