Allele Registry

Canonical Allele Identifier: PA916037597

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089077

RCV002259595

ClinVar Variation:

102822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu249His	CA229740 NM_001354304.2:c.746T>A