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      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.522dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Trp175LeufsTer19",
        "hgvsWellDefined": "NP_001353553.1:p.[Trp175_Lys176delinsLeu;Asn178del;Thr180_Ile187delinsLysTrpAspIleSerSerSer;Asp189_Gln195delinsAsnTyrIleArgTrp;Gly197Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.522dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp175LeufsTer30",
        "hgvsWellDefined": "NP_006484.2:p.[Trp175_Lys176delinsLeu;Asn178_Asn193delinsGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisVal;Met195_Trp198delinsProAsnGlyLys;Lys200_Glu204delinsGlyGluThrGlyGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 3132,
          "referenceAllele": "",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-3133dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-3133dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.522dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Trp175LeufsTer19",
        "hgvsWellDefined": "NP_001353553.1:p.[Trp175_Lys176delinsLeu;Asn178del;Thr180_Ile187delinsLysTrpAspIleSerSerSer;Asp189_Gln195delinsAsnTyrIleArgTrp;Gly197Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.522dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp175LeufsTer30",
        "hgvsWellDefined": "NP_006484.2:p.[Trp175_Lys176delinsLeu;Asn178_Asn193delinsGlyLysTrpAspIleSerSerSerSerAsnTyrIleArgLysHisVal;Met195_Trp198delinsProAsnGlyLys;Lys200_Glu204delinsGlyGluThrGlyGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.522dup"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.522dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp175LeufsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp175LeufsTer30"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}