Allele Registry

Canonical Allele Identifier: PA105397

Gene: PAH HGNC NCBI

ClinVar Allele:

108282

ClinVar RCV:

RCV000088780

RCV001789755

RCV003323399

ClinVar Variation:

102546

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Asp394Ala	CA229372 NM_000277.3:c.1181A>C