Allele Registry

Canonical Allele Identifier: PA3057730725

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV005418635

ClinVar Variation:

3902505

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly312Ser	CA6748790 NM_001354304.2:c.934G>A