Allele Registry

Canonical Allele Identifier: PA229731

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089070

RCV000758094

ClinVar Variation:

102815

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly247Ser	CA229730 NM_000277.3:c.739G>A