Allele Registry

Canonical Allele Identifier: PA916037433

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000178066

RCV000790751

RCV004019527

ClinVar Variation:

92741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro119Ser	CA220582 NM_001354304.2:c.355C>T