Allele Registry

Canonical Allele Identifier: PA916037503

Gene: PAH HGNC NCBI

ClinVar Allele:

108464

ClinVar RCV:

RCV000088977

ClinVar Variation:

102728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu178Val	CA229611 NM_001354304.2:c.533A>T