{
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  "@id": "http://reg.genome.network/allele/CA118015",
  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6169",
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          "RCV000260660",
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          "RCV000763069",
          "RCV003472989"
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      "referenceSequence": "http://reg.genome.network/refseq/RS069766"
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          "allele": "T",
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        "hgvsWellDefined": "NP_001307646.1:p.Arg56_Arg419delinsAspArgSerTyrAlaTrpLeuLeuSerTrpLeuThrArgHisSerThrArgThrGlnHisLeuSerValGluThrSerTyrLeuGlnHisGluSerGlyArgIleSerThrLysPheGluPheValProSerProGlyAsnHisPheIleTrpTyrArgGlyLysTrpIleArgValGluArgSerArgGluMetGlnMetIleAspLeuGlnThrGlyThrProTrpGluSerValThrPheThrAlaLeuGlyThrAspArgLysValPhePheAsnIleLeuGluGluAlaArgGluLeuAlaLeuGlnGlnGluGluGlyLysThrValMetTyrThrAlaValGlySerGluTrpArgProPheGlyTyrProArgArgArgArgProLeuAsnSerValValLeuGlnGlnGlyLeuAlaAspArgIleValArgAspValGlnGluPheIleAspAsnProLysTrpTyrThrAspArgGlyIleProTyrArgArgGlyTyrLeuLeuTyrGlyProProGlyCysGlyLysSerSerPheIleThrAlaLeuAlaGlyGluLeuGluHisSerIleCysLeuLeuSerLeuThrAspSerSerLeuSerAspAspArgLeuAsnHisLeuLeuSerValAlaProGlnGlnSerLeuValLeuLeuGluAspValAspAlaAlaPheLeuSerArgAspLeuAlaValGluAsnProValLysTyrGlnGlyLeuGlyArgLeuThrPheSerGlyLeuLeuAsnAlaLeuAspGlyValAlaSerThrGluAlaArgIleValPheMetThrThrAsnHisValAspArgLeuAspProAlaLeuIleArgProGlyArgValAspLeuLysGluTyrValGlyTyrCysSerHisTrpGlnLeuThrGlnMetPheGlnArgPheTyrProGlyGlnAlaProSerLeuAlaGluAsnPheAlaGluHisValLeuArgAlaThrAsnGlnIleSerProAlaGlnValGlnGlyTyrPheMetLeuTyrLysAsnAspProValGlyAlaIleHisAsnAlaGluSerLeuArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487678",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
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      "hgvs": [
        "NM_001371443.1:c.166C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001358372.1:p.Arg56_Arg419delinsAspArgSerTyrAlaTrpLeuLeuSerTrpLeuThrArgHisSerThrArgThrGlnHisLeuSerValGluThrSerTyrLeuGlnHisGluSerGlyArgIleSerThrLysPheGluPheValProSerProGlyAsnHisPheIleTrpTyrArgGlyLysTrpIleArgValGluArgSerArgGluMetGlnMetIleAspLeuGlnThrGlyThrProTrpGluSerValThrPheThrAlaLeuGlyThrAspArgLysValPhePheAsnIleLeuGluGluAlaArgGluLeuAlaLeuGlnGlnGluGluGlyLysThrValMetTyrThrAlaValGlySerGluTrpArgProPheGlyTyrProArgArgArgArgProLeuAsnSerValValLeuGlnGlnGlyLeuAlaAspArgIleValArgAspValGlnGluPheIleAspAsnProLysTrpTyrThrAspArgGlyIleProTyrArgArgGlyTyrLeuLeuTyrGlyProProGlyCysGlyLysSerSerPheIleThrAlaLeuAlaGlyGluLeuGluHisSerIleCysLeuLeuSerLeuThrAspSerSerLeuSerAspAspArgLeuAsnHisLeuLeuSerValAlaProGlnGlnSerLeuValLeuLeuGluAspValAspAlaAlaPheLeuSerArgAspLeuAlaValGluAsnProValLysTyrGlnGlyLeuGlyArgLeuThrPheSerGlyLeuLeuAsnAlaLeuAspGlyValAlaSerThrGluAlaArgIleValPheMetThrThrAsnHisValAspArgLeuAspProAlaLeuIleArgProGlyArgValAspLeuLysGluTyrValGlyTyrCysSerHisTrpGlnLeuThrGlnMetPheGlnArgPheTyrProGlyGlnAlaProSerLeuAlaGluAsnPheAlaGluHisValLeuArgAlaThrAsnGlnIleSerProAlaGlnValGlnGlyTyrPheMetLeuTyrLysAsnAspProValGlyAlaIleHisAsnAlaGluSerLeuArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487986",
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001358373.1:p.Arg56_Arg419delinsAspArgSerTyrAlaTrpLeuLeuSerTrpLeuThrArgHisSerThrArgThrGlnHisLeuSerValGluThrSerTyrLeuGlnHisGluSerGlyArgIleSerThrLysPheGluPheValProSerProGlyAsnHisPheIleTrpTyrArgGlyLysTrpIleArgValGluArgSerArgGluMetGlnMetIleAspLeuGlnThrGlyThrProTrpGluSerValThrPheThrAlaLeuGlyThrAspArgLysValPhePheAsnIleLeuGluGluAlaArgGluLeuAlaLeuGlnGlnGluGluGlyLysThrValMetTyrThrAlaValGlySerGluTrpArgProPheGlyTyrProArgArgArgArgProLeuAsnSerValValLeuGlnGlnGlyLeuAlaAspArgIleValArgAspValGlnGluPheIleAspAsnProLysTrpTyrThrAspArgGlyIleProTyrArgArgGlyTyrLeuLeuTyrGlyProProGlyCysGlyLysSerSerPheIleThrAlaLeuAlaGlyGluLeuGluHisSerIleCysLeuLeuSerLeuThrAspSerSerLeuSerAspAspArgLeuAsnHisLeuLeuSerValAlaProGlnGlnSerLeuValLeuLeuGluAspValAspAlaAlaPheLeuSerArgAspLeuAlaValGluAsnProValLysTyrGlnGlyLeuGlyArgLeuThrPheSerGlyLeuLeuAsnAlaLeuAspGlyValAlaSerThrGluAlaArgIleValPheMetThrThrAsnHisValAspArgLeuAspProAlaLeuIleArgProGlyArgValAspLeuLysGluTyrValGlyTyrCysSerHisTrpGlnLeuThrGlnMetPheGlnArgPheTyrProGlyGlnAlaProSerLeuAlaGluAsnPheAlaGluHisValLeuArgAlaThrAsnGlnIleSerProAlaGlnValGlnGlyTyrPheMetLeuTyrLysAsnAspProValGlyAlaIleHisAsnAlaGluSerLeuArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488297",
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488605",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
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      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001358376.1:p.Arg56_Arg419delinsAspArgSerTyrAlaTrpLeuLeuSerTrpLeuThrArgHisSerThrArgThrGlnHisLeuSerValGluThrSerTyrLeuGlnHisGluSerGlyArgIleSerThrLysPheGluPheValProSerProGlyAsnHisPheIleTrpTyrArgGlyLysTrpIleArgValGluArgSerArgGluMetGlnMetIleAspLeuGlnThrGlyThrProTrpGluSerValThrPheThrAlaLeuGlyThrAspArgLysValPhePheAsnIleLeuGluGluAlaArgGluLeuAlaLeuGlnGlnGluGluGlyLysThrValMetTyrThrAlaValGlySerGluTrpArgProPheGlyTyrProArgArgArgArgProLeuAsnSerValValLeuGlnGlnGlyLeuAlaAspArgIleValArgAspValGlnGluPheIleAspAsnProLysTrpTyrThrAspArgGlyIleProTyrArgArgGlyTyrLeuLeuTyrGlyProProGlyCysGlyLysSerSerPheIleThrAlaLeuAlaGlyGluLeuGluHisSerIleCysLeuLeuSerLeuThrAspSerSerLeuSerAspAspArgLeuAsnHisLeuLeuSerValAlaProGlnGlnSerLeuValLeuLeuGluAspValAspAlaAlaPheLeuSerArgAspLeuAlaValGluAsnProValLysTyrGlnGlyLeuGlyArgLeuThrPheSerGlyLeuLeuAsnAlaLeuAspGlyValAlaSerThrGluAlaArgIleValPheMetThrThrAsnHisValAspArgLeuAspProAlaLeuIleArgProGlyArgValAspLeuLysGluTyrValGlyTyrCysSerHisTrpGlnLeuThrGlnMetPheGlnArgPheTyrProGlyGlnAlaProSerLeuAlaGluAsnPheAlaGluHisValLeuArgAlaThrAsnGlnIleSerProAlaGlnValGlnGlyTyrPheMetLeuTyrLysAsnAspProValGlyAlaIleHisAsnAlaGluSerLeuArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488912",
      "coordinates": [
        {
          "allele": "T",
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          "start": 458
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      ],
      "gene": "http://reg.genome.network/gene/GN001020",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692915"
    },
    {
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      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489528",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN001020",
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      "referenceSequence": "http://reg.genome.network/refseq/RS692917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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      "proteinEffect": {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS692919"
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS692920"
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      "referenceSequence": "http://reg.genome.network/refseq/RS692921"
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      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS692922"
    },
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      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN001020",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS692923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472692",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN001020",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1471,
          "referenceAllele": "C",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374086.1:c.-311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361015.1:n.-311C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118020",
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.5:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Arg56Ter",
        "hgvsWellDefined": "NP_004319.1:p.Arg56_Arg419delinsAspArgSerTyrAlaTrpLeuLeuSerTrpLeuThrArgHisSerThrArgThrGlnHisLeuSerValGluThrSerTyrLeuGlnHisGluSerGlyArgIleSerThrLysPheGluPheValProSerProGlyAsnHisPheIleTrpTyrArgGlyLysTrpIleArgValGluArgSerArgGluMetGlnMetIleAspLeuGlnThrGlyThrProTrpGluSerValThrPheThrAlaLeuGlyThrAspArgLysValPhePheAsnIleLeuGluGluAlaArgGluLeuAlaLeuGlnGlnGluGluGlyLysThrValMetTyrThrAlaValGlySerGluTrpArgProPheGlyTyrProArgArgArgArgProLeuAsnSerValValLeuGlnGlnGlyLeuAlaAspArgIleValArgAspValGlnGluPheIleAspAsnProLysTrpTyrThrAspArgGlyIleProTyrArgArgGlyTyrLeuLeuTyrGlyProProGlyCysGlyLysSerSerPheIleThrAlaLeuAlaGlyGluLeuGluHisSerIleCysLeuLeuSerLeuThrAspSerSerLeuSerAspAspArgLeuAsnHisLeuLeuSerValAlaProGlnGlnSerLeuValLeuLeuGluAspValAspAlaAlaPheLeuSerArgAspLeuAlaValGluAsnProValLysTyrGlnGlyLeuGlyArgLeuThrPheSerGlyLeuLeuAsnAlaLeuAspGlyValAlaSerThrGluAlaArgIleValPheMetThrThrAsnHisValAspArgLeuAspProAlaLeuIleArgProGlyArgValAspLeuLysGluTyrValGlyTyrCysSerHisTrpGlnLeuThrGlnMetPheGlnArgPheTyrProGlyGlnAlaProSerLeuAlaGluAsnPheAlaGluHisValLeuArgAlaThrAsnGlnIleSerProAlaGlnValGlnGlyTyrPheMetLeuTyrLysAsnAspProValGlyAlaIleHisAsnAlaGluSerLeuArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NR_163955.1:n.1178C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705640"
    }
  ],
  "type": "nucleotide"
}