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        "hgvsWellDefined": "NP_001269553.1:p.Gln23_Arg491delinsHisProAlaTrpGlyArgThrArgAlaLysProGlySerProLeuAsnThrLysLysGluGlyAspLeuIleAlaAlaGlnAlaArgLeuLysAspLeuGluAlaLeuLeuAsnSerLysGluAlaAlaLeuSerThrAlaLeuSerGluLysArgThrLeuGluGlyGluLeuHisAspLeuArgGlyGlnValAlaLysLeuGluAlaAlaLeuGlyGluAlaLysLysGlnLeuGlnAspGluMetLeuArgArgValAspAlaGluAsnArgLeuGlnThrMetLysGluGluLeuAspPheGlnLysAsnIleTyrSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 3747,
          "referenceAllele": "C",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.357-3748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:n.357-3748C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 3747,
          "referenceAllele": "C",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.357-3748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:n.357-3748C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.357-3748C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.357-3748C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:n.357-3748C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:n.357-3748C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 3747,
          "referenceAllele": "C",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.357-3748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:n.357-3748C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}