Allele Registry

Canonical Allele Identifier: PA916037583

Gene: PAH HGNC NCBI

ClinVar Allele:

15630

ClinVar RCV:

RCV000000622

RCV000089059

RCV000624337

ClinVar Variation:

591

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg243Gln	CA251531 NM_001354304.2:c.728G>A