Allele Registry

Canonical Allele Identifier: PA916037746

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088699

RCV000794431

ClinVar Variation:

102468

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp338Tyr	CA229269 NM_001354304.2:c.1012G>T