Allele Registry

Canonical Allele Identifier: PA916037538

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089018

RCV000671113

ClinVar Variation:

102768

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu212Pro	CA229668 NM_001354304.2:c.635T>C