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      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "XM_017025244.2:c.1054C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880733.1:p.Gln352Ter",
        "hgvsWellDefined": "XP_016880733.1:p.Gln352_Glu561delinsValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002852",
      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "XR_001752670.2:n.1558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002852",
      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "XR_001752671.1:n.1165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002852",
      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "XR_001752672.1:n.1166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002852",
      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "XR_002958079.1:n.1164C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA332171",
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002852",
      "geneNCBI_id": 8526,
      "geneSymbol": "DGKE",
      "hgvs": [
        "NM_003647.3:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003638.1:p.Gln334Ter",
        "hgvsWellDefined": "NP_003638.1:p.Gln334_Glu567delinsValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666116",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000284061.8:c.1000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003647.3:c.1000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284061.3:p.Gln334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003638.1:p.Gln334Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}