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  "communityStandardTitle": [
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        {
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        {
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          "endIntronDirection": "-",
          "endIntronOffset": 31,
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      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
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        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
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    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
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      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
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      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.330T>G"
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          "RefSeq": {
            "hgvs": "NM_002485.5:c.330T>G"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000265433.4:p.Tyr110Ter"
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          "RefSeq": {
            "hgvs": "NP_002476.2:p.Tyr110Ter"
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        }
      }
    },
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      "coordinates": [
        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
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        {
          "allele": "G",
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          "start": 725
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      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
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        {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
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        {
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      },
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    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
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      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.84T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Tyr28Ter",
        "hgvsWellDefined": "XP_024302931.1:p.Tyr28_Arg672delinsGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.84T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Tyr28Ter",
        "hgvsWellDefined": "XP_024302932.1:p.Tyr28_Arg672delinsGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "T",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-640T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-640T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645465275",
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.330T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Tyr110Ter",
        "hgvsWellDefined": "NP_002476.2:p.Tyr110_Arg754delinsGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.330T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.330T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Tyr110Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Tyr110Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956789",
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "T",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.84T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Tyr28Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Tyr28_Arg672delinsGluProLeuValAlaCysSerSerCysLeuAspValSerGlyLysThrAlaLeuAsnGlnAlaIleLeuGlnLeuGlyGlyPheThrValAsnAsnTrpThrGluGluCysThrHisLeuValMetValSerValLysValThrIleLysThrIleCysAlaLeuIleCysGlyArgProIleValLysProGluTyrPheThrGluPheLeuLysAlaValGluSerLysLysGlnProProGlnIleGluSerPheTyrProProLeuAspGluProSerIleGlySerLysAsnValAspLeuSerGlyArgGlnGluArgLysGlnIlePheLysGlyLysThrPheIlePheLeuAsnAlaLysGlnHisLysLysLeuSerSerAlaValValPheGlyGlyGlyGluAlaArgLeuIleThrGluGluAsnGluGluGluHisAsnPhePheLeuAlaProGlyThrCysValValAspThrGlyIleThrAsnSerGlnThrLeuIleProAspCysGlnLysLysTrpIleGlnSerIleMetAspMetLeuGlnArgGlnGlyLeuArgProIleProGluAlaGluIleGlyLeuAlaValIlePheMetThrThrLysAsnTyrCysAspProGlnGlyHisProSerThrGlyLeuLysThrThrThrProGlyProSerLeuSerGlnGlyValSerValAspGluLysLeuMetProSerAlaProValAsnThrThrThrTyrValAlaAspThrGluSerGluGlnAlaAspThrTrpAspLeuSerGluArgProLysGluIleLysValSerLysMetGluGlnLysPheArgMetLeuSerGlnAspAlaProThrValLysGluSerCysLysThrSerSerAsnAsnAsnSerMetValSerAsnThrLeuAlaLysMetArgIleProAsnTyrGlnLeuSerProThrLysLeuProSerIleAsnLysSerLysAspArgAlaSerGlnGlnGlnGlnThrAsnSerIleArgAsnTyrPheGlnProSerThrLysLysArgGluArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}