Allele Registry

Canonical Allele Identifier: PA916037716

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089168

RCV000672630

ClinVar Variation:

102904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro314Thr	CA229863 NM_001354304.2:c.940C>A