Allele Registry

Canonical Allele Identifier: PA357241

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000210788

ClinVar Variation:

225136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ser391Thr	CA357240 NM_000277.3:c.1172G>C