Allele Registry

Canonical Allele Identifier: PA916037646

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089112

RCV000148723

ClinVar Variation:

102851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Lys274Glu	CA229786 NM_001354304.2:c.820A>G