ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580492135
Gene: PNPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1975443
ClinVar RCV Id:
RCV002755679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Cys154Tyr
CA346938955
NM_033109.5:c.461G>A