Allele Registry

Canonical Allele Identifier: PA916037448

Gene: PAH HGNC NCBI

ClinVar Allele:

108406

ClinVar RCV:

RCV000088918

RCV000595460

ClinVar Variation:

102670

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Pro147Leu	CA229543 NM_001354304.2:c.440C>T