Allele Registry

Canonical Allele Identifier: PA229687

Gene: PAH HGNC NCBI

ClinVar Allele:

108516

ClinVar RCV:

RCV000089031

RCV001543660

ClinVar Variation:

102780

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Pro225Ala	CA229686 NM_000277.3:c.673C>G