Allele Registry

Canonical Allele Identifier: PA2580223085

Gene: PAH HGNC NCBI

ClinVar Allele:

1874535

ClinVar RCV:

RCV003041167

RCV003229102

ClinVar Variation:

2137406

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu280Ala	CA16020696 NM_001354304.2:c.839A>C