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  "communityStandardTitle": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
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        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
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      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
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          "start": 701
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
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        {
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          "referenceAllele": "C",
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      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
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    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 2495,
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          "startIntronOffset": 2494
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      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
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          "end": 705,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
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      "geneNCBI_id": 4683,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-315C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658729820",
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
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      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.565C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_002476.2:p.Gln189_Arg754delinsProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.565C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.565C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gln189Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gln189Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825334353",
      "coordinates": [
        {
          "allele": "T",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gln107Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Gln107_Arg672delinsProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}