Canonical Allele Identifier: PA250388
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209184
ClinVar RCV Id: RCV000191120 RCV001705075 RCV003147393 RCV002517033
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Amino-acid Alleles

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