Allele Registry

Canonical Allele Identifier: PA916037513

Gene: PAH HGNC NCBI

ClinVar Allele:

108474

ClinVar RCV:

RCV000088987

RCV000674846

ClinVar Variation:

102738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly188Asp	CA229628 NM_001354304.2:c.563G>A