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      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Gln38Ter",
        "hgvsWellDefined": "NP_443077.1:p.Gln38_Leu250delinsGlyValGluAspGlyAspArgProGlnProSerSerLysThrProArgIleProLysIleTyrThrLysThrGlyAspLysGlyPheSerSerThrPheThrGlyGluArgArgProLysAspAspGlnValPheGluAlaValGlyThrThrAspGluLeuSerSerAlaIleGlyPheAlaLeuGluLeuValThrGluLysGlyHisThrPheAlaGluGluLeuGlnLysIleGlnCysThrLeuGlnAspValGlySerAlaLeuAlaThrProCysSerSerAlaArgGluAlaHisLeuLysTyrThrThrPheLysAlaGlyProIleLeuGluLeuGluGlnTrpIleAspLysTyrThrSerGlnLeuProProLeuThrAlaPheIleLeuProSerGlyGlyLysIleSerSerAlaLeuHisPheCysArgAlaValCysArgArgAlaGluArgArgValValProLeuValGlnMetGlyGluThrAspAlaAsnValAlaLysPheLeuAsnArgLeuSerAspTyrLeuPheThrLeuAlaArgTyrAlaAlaMetLysGluGlyAsnGlnGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Gln38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Gln38Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}