ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324590
Gene: PNPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1360322
ClinVar RCV Id:
RCV001864927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Tyr296Cys
CA324589
NM_033109.5:c.887A>G