{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3273051572",
  "communityStandardTitle": [
    "NM_000465.4(BARD1):c.100_101insAGC (p.Trp34Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 214809469,
          "referenceAllele": "",
          "start": 214809469
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214809469_214809470insGCT",
        "CM000664.2:g.214809469_214809470insGCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 215674193,
          "referenceAllele": "",
          "start": 215674193
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215674193_215674194insGCT",
        "CM000664.1:g.215674193_215674194insGCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 215382438,
          "referenceAllele": "",
          "start": 215382438
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215382438_215382439insGCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 5235,
          "referenceAllele": "",
          "start": 5235
        }
      ],
      "hgvs": [
        "NG_012047.2:g.5235_5236insAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002133"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 5242,
          "referenceAllele": "",
          "start": 5242
        }
      ],
      "hgvs": [
        "NG_012047.3:g.5242_5243insAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706107"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.9:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260947.4:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000260947.4:p.Trp34_Ser777delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742071",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.100_101insAGC"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.100_101insAGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Trp34Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Trp34Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 128,
          "referenceAllele": "",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000421162.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392245.2:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000392245.2:p.Trp34_Ser326delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754871"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613192.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483275.2:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000483275.2:p.Trp34_Met63delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgTrpGlyLysSerMetSerThrLysLysSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761913"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 173,
          "referenceAllele": "",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613374.5:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484464.1:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000484464.1:p.Trp34_Ser307delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761918"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613706.5:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484976.2:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000484976.2:p.Trp34_Ser641delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761932"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 173,
          "referenceAllele": "",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000617164.5:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480470.1:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000480470.1:p.Trp34_Ser758delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762100"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 128,
          "referenceAllele": "",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000619009.5:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482293.1:p.Trp34Ter",
        "hgvsWellDefined": "ENSP00000482293.1:p.Trp34_Ser264delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762210"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 235,
          "referenceAllele": "",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.8:c.100_101insAGC"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404187"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006526"
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      "referenceSequence": "http://reg.genome.network/refseq/RS022030"
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        {
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          "end": 242,
          "referenceAllele": "",
          "start": 242
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      "referenceSequence": "http://reg.genome.network/refseq/RS022032"
    },
    {
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        {
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          "referenceAllele": "",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022035"
    },
    {
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        {
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          "referenceAllele": "",
          "start": 242
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022036"
    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN000952",
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      "referenceSequence": "http://reg.genome.network/refseq/RS053302"
    },
    {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS053305"
    },
    {
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          "referenceAllele": "",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS053306"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011509870.1:p.Trp34_Ser642delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078829"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 191,
          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560077"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
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          "referenceAllele": "",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560078"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS605255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645472776",
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        {
          "allele": "AGC",
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          "start": 214
        }
      ],
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      "hgvs": [
        "NM_000465.4:c.100_101insAGC"
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      "proteinEffect": {
        "hgvs": "NP_000456.2:p.Trp34Ter",
        "hgvsWellDefined": "NP_000456.2:p.Trp34_Ser777delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.100_101insAGC"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.100_101insAGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Trp34Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Trp34Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826650632",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282543.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269472.1:p.Trp34Ter",
        "hgvsWellDefined": "NP_001269472.1:p.Trp34_Ser758delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826653213",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282545.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269474.1:p.Trp34Ter",
        "hgvsWellDefined": "NP_001269474.1:p.Trp34_Ser326delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826654375",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282548.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269477.1:p.Trp34Ter",
        "hgvsWellDefined": "NP_001269477.1:p.Trp34_Ser307delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013333",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282549.2:c.100_101insAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269478.1:p.Trp34Ter",
        "hgvsWellDefined": "NP_001269478.1:p.Trp34_Ser264delinsAlaHisSerArgAlaAlaLeuAspArgLeuGluLysLeuLeuArgCysSerArgCysThrAsnIleLeuArgGluProValCysLeuGlyGlyCysGluHisIlePheCysSerAsnCysValSerAspCysIleGlyThrGlyCysProValCysTyrThrProAlaTrpIleGlnAspLeuLysIleAsnArgGlnLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681818"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104212.2:n.214_215insAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702953"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104215.2:n.214_215insAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702955"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 214,
          "referenceAllele": "",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104216.2:n.214_215insAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702956"
    }
  ],
  "type": "nucleotide"
}