Allele Registry

Canonical Allele Identifier: PA229720

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089060

RCV001543659

ClinVar Variation:

102808

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg243Leu	CA229719 NM_000277.3:c.728G>T