Allele Registry

Canonical Allele Identifier: PA250388

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000191120

RCV001705075

RCV002517033

RCV003147393

ClinVar Variation:

209184

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Thr531Arg	CA250387 NM_033109.5:c.1592C>G