Allele Registry

Canonical Allele Identifier: PA229675

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089022

RCV000758101

ClinVar Variation:

102772

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Cys217Tyr	CA229674 NM_000277.3:c.650G>A