Allele Registry

Canonical Allele Identifier: PA105125

Gene: PAH HGNC NCBI

ClinVar Allele:

108560

ClinVar RCV:

RCV000089080

RCV000179742

ClinVar Variation:

102824

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg252Gln	CA229743 NM_000277.3:c.755G>A