Allele Registry

Canonical Allele Identifier: PA916037582

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089060

RCV001543659

ClinVar Variation:

102808

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg243Leu	CA229719 NM_001354304.2:c.728G>T