Canonical Allele Identifier: PA250390
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209185
ClinVar RCV Id: RCV000196452 RCV000191121 RCV000845061 RCV000766604 RCV003152596 RCV002514095
JSON-LD

Amino-acid Alleles

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