Allele Registry

Canonical Allele Identifier: PA658663623

Gene: PAH HGNC NCBI

ClinVar Allele:

440021

ClinVar RCV:

RCV000515773

ClinVar Variation:

446506

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly312Cys	CA386291684 NM_000277.3:c.934G>T