{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343389",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2063606",
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        "id": "COSM2063606"
      }
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        "alleleId": 47668,
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39065",
        "RCV": [
          "RCV000032330",
          "RCV000667295",
          "RCV000780316",
          "RCV002288528"
        ],
        "variationId": 39065
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102154949G>A?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
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      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
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    },
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
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        {
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        "hgvsWellDefined": "XP_016875451.1:p.Arg622_Val847delinsThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
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      "hgvs": [
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        "hgvsWellDefined": "NP_077288.2:p.Arg1031_Val1256delinsThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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        "protein": {
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          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg1031Ter"
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        }
      }
    }
  ],
  "type": "nucleotide"
}