Allele Registry

Canonical Allele Identifier: PA2580231137

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV003038667

ClinVar Variation:

2113230

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Thr186Ala	CA386296870 NM_001354304.2:c.556A>G