Allele Registry

Canonical Allele Identifier: PA229370

Gene: PAH HGNC NCBI

ClinVar Allele:

108280

ClinVar RCV:

RCV000088778

RCV001269040

ClinVar Variation:

102544

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Phe392Ser	CA229369 NM_000277.3:c.1175T>C