Allele Registry

Canonical Allele Identifier: PA916037676

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089143

RCV000548849

RCV000758136

ClinVar Variation:

102882

458082

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly289Arg	CA229830 NM_001354304.2:c.865G>C CA386294434 NM_001354304.2:c.865G>A