Allele Registry

Canonical Allele Identifier: PA3057571542

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV004956864

ClinVar Variation:

3413313

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser439Cys	CA386492912 NM_001354304.2:c.1315A>T