Canonical Allele Identifier: PA322067
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215010
ClinVar RCV Id: RCV000197606 RCV000680151 RCV000787360 RCV001089488 RCV001266860 RCV003152598 RCV003147399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149100.2:p.Ala507Ser
CA322066
NM_033109.5:c.1519G>T