Allele Registry

Canonical Allele Identifier: PA916037648

Gene: PAH HGNC NCBI

ClinVar Allele:

108590

ClinVar RCV:

RCV000089115

RCV000672381

ClinVar Variation:

102854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro275Arg	CA229791 NM_001354304.2:c.824C>G