Allele Registry

Canonical Allele Identifier: PA916037442

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088908

RCV000672629

ClinVar Variation:

102661

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp129Gly	CA229527 NM_001354304.2:c.386A>G