Canonical Allele Identifier: PA2573298966
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507005
ClinVar RCV Id: RCV002009259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Val298Asp
CA346932207
NM_033109.5:c.893T>A