Allele Registry

Canonical Allele Identifier: PA229733

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089071

RCV000668140

ClinVar Variation:

102816

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly247Arg	CA229732 NM_000277.3:c.739G>C