Allele Registry

Canonical Allele Identifier: PA319877

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000195523

ClinVar Variation:

215006

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Arg192Gln	CA319876 NM_033109.5:c.575G>A