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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.2:c.3428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Trp1143Ter",
        "hgvsWellDefined": "NP_001123538.1:p.Trp1143_Val1292delinsValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471785",
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.3:c.3470G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Trp1157Ter",
        "hgvsWellDefined": "NP_006763.2:p.Trp1157_His1343delinsValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.3470G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.3470G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Trp1157Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Trp1157Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 2101,
          "referenceAllele": "C",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053831",
      "geneNCBI_id": 112390310,
      "geneSymbol": "SYNGAP1-AS1",
      "hgvs": [
        "NR_174954.1:n.329+2101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785077"
    }
  ],
  "type": "nucleotide"
}