Allele Registry

Canonical Allele Identifier: PA916037812

Gene: PAH HGNC NCBI

ClinVar Allele:

108280

ClinVar RCV:

RCV000088778

RCV001269040

ClinVar Variation:

102544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe392Ser	CA229369 NM_001354304.2:c.1175T>C