Allele Registry

Canonical Allele Identifier: PA916037663

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000610

RCV000078532

RCV002512608

RCV003162201

ClinVar Variation:

580

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu280Lys	CA251525 NM_001354304.2:c.838G>A