Allele Registry

Canonical Allele Identifier: PA916037808

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000650

RCV000088774

ClinVar Variation:

619

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val388Met	CA251543 NM_001354304.2:c.1162G>A