Allele Registry

Canonical Allele Identifier: PA916037635

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089102

RCV000763291

ClinVar Variation:

102843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile269Asn	CA229776 NM_001354304.2:c.806T>A