Allele Registry

Canonical Allele Identifier: PA1139742149

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001252100

RCV003382491

ClinVar Variation:

975467

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys274Arg	CA386294555 NM_001354304.2:c.821A>G