Allele Registry

Canonical Allele Identifier: PA916037498

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088972

RCV000810165

ClinVar Variation:

102724

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg176Gln	CA229606 NM_001354304.2:c.527G>A