Allele Registry

Canonical Allele Identifier: PA229792

Gene: PAH HGNC NCBI

ClinVar Allele:

108590

ClinVar RCV:

RCV000089115

RCV000672381

ClinVar Variation:

102854

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Pro275Arg	CA229791 NM_000277.3:c.824C>G