Allele Registry

Canonical Allele Identifier: PA916037543

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089020

RCV000664975

ClinVar Variation:

102770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Cys217Arg	CA229671 NM_001354304.2:c.649T>C