Allele Registry

Canonical Allele Identifier: PA916037666

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000078533

RCV000721177

ClinVar Variation:

92749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro281Ser	CA220587 NM_001354304.2:c.841C>T