Allele Registry

Canonical Allele Identifier: PA104884

Gene: PAH HGNC NCBI

ClinVar Allele:

98658

ClinVar RCV:

RCV000078536

RCV000150084

RCV000590551

RCV001267463

ClinVar Variation:

92751

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala300Ser	CA273108 NM_000277.3:c.898G>T