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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.1236C>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.1236C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Cys412Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Cys412Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.*457C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:n.*457C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826862585",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.1236C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Cys412Ter",
        "hgvsWellDefined": "NP_001288000.1:p.Cys412_Gln608delinsLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828115725",
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.804C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:p.Cys268Ter",
        "hgvsWellDefined": "NP_001350740.1:p.Cys268_Gln464delinsLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826431508",
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.2:c.306C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:p.Cys102Ter",
        "hgvsWellDefined": "NP_001243825.1:p.Cys102_Pro194delinsLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714852"
    }
  ],
  "type": "nucleotide"
}