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        "hgvsWellDefined": "ENSP00000468611.1:p.Gln311_Leu320delinsProProIleSerAsnHisProGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.1:c.131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.931C>T",
        "LRG_318t1:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Gln311Ter",
        "hgvsWellDefined": "NP_005350.1:p.Gln311_Asp552delinsProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Gln311Ter",
        "hgvsWellDefined": "NP_005350.1:p.Gln311_Asp552delinsProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.931C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.931C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Gln311Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Gln311Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}