Allele Registry

Canonical Allele Identifier: PA229831

Gene: PAH HGNC NCBI

ClinVar Allele:

108618

462148

ClinVar RCV:

RCV000089143

RCV000548849

RCV000758136

ClinVar Variation:

102882

458082

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly289Arg	CA229830 NM_000277.3:c.865G>C CA386294434 NM_000277.3:c.865G>A