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          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 7535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-7535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-7535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.*43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*43G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976591",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp198Ter",
        "hgvsWellDefined": "NP_006484.2:p.Trp198_Leu358delinsValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.594G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.594G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp198Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp198Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}