{
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  "@id": "http://reg.genome.network/allele/CA9731179",
  "communityStandardTitle": [
    "NM_003245.4(TGM3):c.1351C>T (p.Gln451Ter)"
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  "externalRecords": {
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4097131",
        "active": true,
        "id": "COSM4097131"
      }
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        "preferredName": "NM_003245.4(TGM3):c.1351C>T (p.Gln451Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374840",
        "RCV": [
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        ],
        "variationId": 374840
      }
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      }
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        "id": "chr20:g.2312665C>T"
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    ],
    "gnomAD_4": [
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    },
    {
      "chromosome": "20",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
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          "end": 2260665,
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        }
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      "referenceGenome": "NCBI36",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS617272"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752537",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771719"
    },
    {
      "coordinates": [
        {
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      "geneNCBI_id": 7053,
      "geneSymbol": "TGM3",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470361",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
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      "geneSymbol": "TGM3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003236.3:p.Gln451_Glu693delinsValPheGlnLysAlaLeuGlyLysLeuLysProAsnThrProPheAlaAlaThrSerSerMetGlyLeuGluThrGluGluGlnGluProSerIleIleGlyLysLeuLysValAlaGlyMetLeuAlaValGlyLysGluValAsnLeuValLeuLeuLeuLysAsnLeuSerArgAspThrLysThrValThrValAsnMetThrAlaTrpThrIleIleTyrAsnGlyThrLeuValHisGluValTrpLysAspSerAlaThrMetSerLeuAspProGluGluGluAlaGluHisProIleLysIleSerTyrAlaGlnTyrGluLysTyrLeuLysSerAspAsnMetIleArgIleThrAlaValCysLysValProAspGluSerGluValValValGluArgAspIleIleLeuAspAsnProThrLeuThrLeuGluValLeuAsnGluAlaArgValArgLysProValAsnValGlnMetLeuPheSerAsnProLeuAspGluProValArgAspCysValLeuMetValGluGlySerGlyLeuLeuLeuGlyAsnLeuLysIleAspValProThrLeuGlyProLysGluGlySerArgValArgPheAspIleLeuProSerArgSerGlyThrLysGlnLeuLeuAlaAspPheSerCysAsnLysPheProAlaIleLysAlaMetLeuSerIleAspValAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470361",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381458.6:c.1351C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003245.4:c.1351C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370867.5:p.Gln451Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003236.3:p.Gln451Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}