Allele Registry

Canonical Allele Identifier: PA229710

Gene: PAH HGNC NCBI

ClinVar Allele:

108535

ClinVar RCV:

RCV000089050

RCV002514545

ClinVar Variation:

102799

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly239Ala	CA229709 NM_000277.3:c.716G>C