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        "NM_172250.3:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_758454.1:p.Gln248_Asp418delinsSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gln248Ter"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gln248Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gln248Ter",
        "hgvsWellDefined": "XP_011529986.1:p.Gln248_Asp418delinsSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gln248Ter",
        "hgvsWellDefined": "XP_011529987.1:p.Gln248_Asp418delinsSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Gln83Ter",
        "hgvsWellDefined": "XP_011529988.1:p.Gln83_Asp253delinsSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001362573.1:p.Gln248_Asp418delinsSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}