Allele Registry

Canonical Allele Identifier: PA916037488

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088964

RCV000560269

RCV001897836

ClinVar Variation:

102716

1384858

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly171Arg	CA229598 NM_001354304.2:c.511G>A CA386297069 NM_001354304.2:c.511G>C