Allele Registry

Canonical Allele Identifier: PA267679

Gene: PAH HGNC NCBI

ClinVar Allele:

125883

ClinVar RCV:

RCV000106370

ClinVar Variation:

120289

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Pro281Ala	CA267678 NM_000277.3:c.841C>G