Allele Registry

Canonical Allele Identifier: PA320115

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000195745

RCV002273982

ClinVar Variation:

215009

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Met485Val	CA320114 NM_033109.5:c.1453A>G