Allele Registry

Canonical Allele Identifier: PA916037616

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089091

RCV000410877

ClinVar Variation:

102832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg261Pro	CA229759 NM_001354304.2:c.782G>C