Allele Registry

Canonical Allele Identifier: PA316569

Gene: PNPO HGNC NCBI

ClinVar RCV:

RCV000188500

RCV000208780

RCV004539748

ClinVar Variation:

206452

HGVS (amino-acid)	Matching Registered Transcripts
NP_060599.1:p.Arg229Gln	CA316568 NM_018129.4:c.686G>A