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        {
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          "start": 803
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      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
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      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
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      "referenceSequence": "http://reg.genome.network/refseq/RS345369"
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    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
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        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
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      "hgvs": [
        "XM_011517044.1:c.625G>T"
      ],
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        "hgvs": "XP_011515346.1:p.Glu209Ter",
        "hgvsWellDefined": "XP_011515346.1:p.Glu209_Arg746delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011515348.1:p.Glu217_Gly469delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysLysGlyLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
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        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.786G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-231G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-231G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
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      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-231G>T"
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      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-231G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.403G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Glu135Ter",
        "hgvsWellDefined": "XP_024302931.1:p.Glu135_Arg672delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.403G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Glu135Ter",
        "hgvsWellDefined": "XP_024302932.1:p.Glu135_Arg672delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-231G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-231G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741897519",
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.649G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Glu217Ter",
        "hgvsWellDefined": "NP_002476.2:p.Glu217_Arg754delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.649G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.649G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Glu217Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Glu217Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334438",
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.403G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Glu135Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Glu135_Arg672delinsArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}