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      "hgvs": [
        "XM_011536217.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534519.1:p.Gln131Ter",
        "hgvsWellDefined": "XP_011534519.1:p.Gln131_Lys287delinsTyrAsnAlaLeuThrLeuThrPheGlnArgAlaMetHisAspTyrAsnGlnAlaGluMetLysGlnArgAspAsnCysLysIleArgIleGlnArgGlnLeuGluIleMetGlyLysGluValSerGlyAspGlnIleGluAspMetPheGluGlnGlyLysTrpAspValPheSerGluAsnLeuLeuAlaAspValLysGlyAlaArgAlaAlaLeuAsnGluIleGluSerArgHisArgGluLeuLeuArgLeuGluSerArgIleArgAspValHisGluLeuPheLeuGlnMetAlaValLeuValGluLysGlnAlaAspThrLeuAsnValIleGluLeuAsnValGlnLysThrValAspTyrThrGlyGlnAlaLysAlaGlnValArgLysAlaValGlnTyrGluGluLysAsnProCysArgThrLeuCysCysPheCysCysProCysLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011429",
      "geneNCBI_id": 8676,
      "geneSymbol": "STX11",
      "hgvs": [
        "XM_011536218.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534520.1:p.Gln131Ter",
        "hgvsWellDefined": "XP_011534520.1:p.Gln131_Lys287delinsTyrAsnAlaLeuThrLeuThrPheGlnArgAlaMetHisAspTyrAsnGlnAlaGluMetLysGlnArgAspAsnCysLysIleArgIleGlnArgGlnLeuGluIleMetGlyLysGluValSerGlyAspGlnIleGluAspMetPheGluGlnGlyLysTrpAspValPheSerGluAsnLeuLeuAlaAspValLysGlyAlaArgAlaAlaLeuAsnGluIleGluSerArgHisArgGluLeuLeuArgLeuGluSerArgIleArgAspValHisGluLeuPheLeuGlnMetAlaValLeuValGluLysGlnAlaAspThrLeuAsnValIleGluLeuAsnValGlnLysThrValAspTyrThrGlyGlnAlaLysAlaGlnValArgLysAlaValGlnTyrGluGluLysAsnProCysArgThrLeuCysCysPheCysCysProCysLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011429",
      "geneNCBI_id": 8676,
      "geneSymbol": "STX11",
      "hgvs": [
        "XM_017011400.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866889.1:p.Gln131Ter",
        "hgvsWellDefined": "XP_016866889.1:p.Gln131_Lys287delinsTyrAsnAlaLeuThrLeuThrPheGlnArgAlaMetHisAspTyrAsnGlnAlaGluMetLysGlnArgAspAsnCysLysIleArgIleGlnArgGlnLeuGluIleMetGlyLysGluValSerGlyAspGlnIleGluAspMetPheGluGlnGlyLysTrpAspValPheSerGluAsnLeuLeuAlaAspValLysGlyAlaArgAlaAlaLeuAsnGluIleGluSerArgHisArgGluLeuLeuArgLeuGluSerArgIleArgAspValHisGluLeuPheLeuGlnMetAlaValLeuValGluLysGlnAlaAspThrLeuAsnValIleGluLeuAsnValGlnLysThrValAspTyrThrGlyGlnAlaLysAlaGlnValArgLysAlaValGlnTyrGluGluLysAsnProCysArgThrLeuCysCysPheCysCysProCysLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275515",
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011429",
      "geneNCBI_id": 8676,
      "geneSymbol": "STX11",
      "hgvs": [
        "NM_003764.4:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003755.2:p.Gln131Ter",
        "hgvsWellDefined": "NP_003755.2:p.Gln131_Lys287delinsTyrAsnAlaLeuThrLeuThrPheGlnArgAlaMetHisAspTyrAsnGlnAlaGluMetLysGlnArgAspAsnCysLysIleArgIleGlnArgGlnLeuGluIleMetGlyLysGluValSerGlyAspGlnIleGluAspMetPheGluGlnGlyLysTrpAspValPheSerGluAsnLeuLeuAlaAspValLysGlyAlaArgAlaAlaLeuAsnGluIleGluSerArgHisArgGluLeuLeuArgLeuGluSerArgIleArgAspValHisGluLeuPheLeuGlnMetAlaValLeuValGluLysGlnAlaAspThrLeuAsnValIleGluLeuAsnValGlnLysThrValAspTyrThrGlyGlnAlaLysAlaGlnValArgLysAlaValGlnTyrGluGluLysAsnProCysArgThrLeuCysCysPheCysCysProCysLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367568.5:c.391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003764.4:c.391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356540.4:p.Gln131Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003755.2:p.Gln131Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}