Allele Registry

Canonical Allele Identifier: PA916037412

Gene: PAH HGNC NCBI

ClinVar Allele:

108375

ClinVar RCV:

RCV000088883

RCV000761308

ClinVar Variation:

102639

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp84Tyr	CA229500 NM_001354304.2:c.250G>T