Canonical Allele Identifier: PA323216
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214999
ClinVar RCV Id: RCV000198672 RCV000440491 RCV004530172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Lys315Arg
CA323215
NM_033109.5:c.944A>G