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          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 4609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.84-4609G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:n.84-4609G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.219G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Trp73Ter",
        "hgvsWellDefined": "ENSP00000457783.1:p.Trp73_His248delinsPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.219G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:p.Trp73Ter",
        "hgvsWellDefined": "ENSP00000454818.1:p.Trp73_Leu105delinsPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysArgLeuLeuTyrCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139728737",
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.219G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Trp73Ter",
        "hgvsWellDefined": "NP_060352.1:p.Trp73_His311delinsPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "XR_931861.1:n.322G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139728737",
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.219G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Trp73Ter",
        "hgvsWellDefined": "NP_060352.1:p.Trp73_His311delinsPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.219G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.219G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Trp73Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Trp73Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}