Canonical Allele Identifier: PA2573298778
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470911
ClinVar RCV Id: RCV001995335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Asp166Glu
CA346938881
NM_033109.5:c.498T>G
CA346938882
NM_033109.5:c.498T>A