Allele Registry

Canonical Allele Identifier: PA916037471

Gene: PAH HGNC NCBI

ClinVar Allele:

108434

ClinVar RCV:

RCV000088946

RCV000535090

RCV002251981

RCV003114254

ClinVar Variation:

102698

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile164Val	CA229576 NM_001354304.2:c.490A>G