Allele Registry

Canonical Allele Identifier: PA250390

Gene: PNPT1 HGNC NCBI

ClinVar RCV:

RCV000191121

RCV000196452

RCV000766604

RCV000845061

RCV002514095

RCV003152596

ClinVar Variation:

209185

HGVS (amino-acid)	Matching Registered Transcripts
NP_149100.2:p.Val509Ile	CA250389 NM_033109.5:c.1525G>A