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          "endIntronDirection": "+",
          "endIntronOffset": 1029,
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          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.218+1029C>G"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "endIntronDirection": "+",
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          "startIntronOffset": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
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      "hgvs": [
        "ENST00000569030.5:c.460+1029C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:n.460+1029C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.597C>G"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "endIntronDirection": "-",
          "endIntronOffset": 2308,
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          "startIntronOffset": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.223-2309C>G"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
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      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000486616.1:p.Tyr199_Ser341delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116351",
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.597C>G",
        "LRG_689t1:c.597C>G"
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      "proteinEffect": {
        "hgvs": "NP_000077.1:p.Tyr199Ter",
        "hgvsWellDefined": "NP_000077.1:p.Tyr199_Ser438delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116352",
      "coordinates": [
        {
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          "end": 956,
          "referenceAllele": "C",
          "start": 955
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      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
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        "LRG_689t2:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Tyr199Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Tyr199_Ser438delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704132",
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
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      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Tyr175Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Tyr175_Ser414delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014710",
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Tyr99_Ser338delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705873",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.363C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Tyr121Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Tyr121_Ser360delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706930",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.435C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Tyr145Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Tyr145_Ser384delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116352",
      "coordinates": [
        {
          "allele": "G",
          "end": 728,
          "referenceAllele": "C",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.597C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Tyr199Ter",
        "hgvsWellDefined": "NP_001035897.1:p.Tyr199_Ser438delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.597C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.597C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Tyr199Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Tyr199Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826704132",
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.525C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Tyr175Ter",
        "hgvsWellDefined": "NP_001273033.1:p.Tyr175_Ser414delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014710",
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_001273034.1:p.Tyr99_Ser338delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826705873",
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.363C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Tyr121Ter",
        "hgvsWellDefined": "NP_001273038.1:p.Tyr121_Ser360delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826706930",
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.435C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Tyr145Ter",
        "hgvsWellDefined": "NP_001273039.1:p.Tyr145_Ser384delinsLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}