Allele Registry

Canonical Allele Identifier: PA916037569

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089047

RCV000672442

ClinVar Variation:

102796

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Thr238Pro	CA229705 NM_001354304.2:c.712A>C