Allele Registry

Canonical Allele Identifier: PA916037482

Gene: PAH HGNC NCBI

ClinVar Allele:

108442

ClinVar RCV:

RCV000088954

RCV000311018

RCV001530926

RCV002515783

RCV003987362

ClinVar Variation:

102706

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg169His	CA286505 NM_001354304.2:c.506G>A