{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA311349847",
  "communityStandardTitle": [
    "NM_000214.3(JAG1):c.765C>A (p.Tyr255Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4562295[alleleid]",
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        "preferredName": "NM_000214.3(JAG1):c.765C>A (p.Tyr255Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4447689",
        "RCV": [
          "RCV006155863",
          "RCV006155862",
          "RCV006155861"
        ],
        "variationId": 4447689
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.10633237G>T?assembly=hg19",
        "id": "chr20:g.10633237G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.10652589G>T?assembly=hg38",
        "id": "chr20:g.10652589G>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131695",
        "rs": 1131695
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    ]
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      "chromosome": "20",
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      "referenceGenome": "GRCh38",
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    },
    {
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        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "20",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000618"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741694",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000254958.10:c.765C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000214.3:c.765C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254958.4:p.Tyr255Ter"
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          "RefSeq": {
            "hgvs": "NP_000205.1:p.Tyr255Ter"
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        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
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          "start": 133
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      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
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      "hgvs": [
        "ENST00000617965.2:n.134C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS762149"
    },
    {
      "coordinates": [
        {
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          "end": 1342,
          "referenceAllele": "C",
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        }
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      "gene": "http://reg.genome.network/gene/GN006188",
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      "hgvs": [
        "ENST00000254958.9:c.765C>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000254958.4:p.Tyr255Ter",
        "hgvsWellDefined": "ENSP00000254958.4:p.Tyr255_Val1218delinsGlyTrpGlnGlyLeuTyrCysAspLysCysIleProHisProGlyCysValHisGlyIleCysAsnGluProTrpGlnCysLeuCysGluThrAsnTrpGlyGlyGlnLeuCysAspLysAspLeuAsnTyrCysGlyThrHisGlnProCysLeuAsnGlyGlyThrCysSerAsnThrGlyProAspLysTyrGlnCysSerCysProGluGlyTyrSerGlyProAsnCysGluIleAlaGluHisAlaCysLeuSerAspProCysHisAsnArgGlySerCysLysGluThrSerLeuGlyPheGluCysGluCysSerProGlyTrpThrGlyProThrCysSerThrAsnIleAspAspCysSerProAsnAsnCysSerHisGlyGlyThrCysGlnAspLeuValAsnGlyPheLysCysValCysProProGlnTrpThrGlyLysThrCysGlnLeuAspAlaAsnGluCysGluAlaLysProCysValAsnAlaLysSerCysLysAsnLeuIleAlaSerTyrTyrCysAspCysLeuProGlyTrpMetGlyGlnAsnCysAspIleAsnIleAsnAspCysLeuGlyGlnCysGlnAsnAspAlaSerCysArgAspLeuValAsnGlyTyrArgCysIleCysProProGlyTyrAlaGlyAspHisCysGluArgAspIleAspGluCysAlaSerAsnProCysLeuAsnGlyGlyHisCysGlnAsnGluIleAsnArgPheGlnCysLeuCysProThrGlyPheSerGlyAsnLeuCysGlnLeuAspIleAspTyrCysGluProAsnProCysGlnAsnGlyAlaGlnCysTyrAsnArgAlaSerAspTyrPheCysLysCysProGluAspTyrGluGlyLysAsnCysSerHisLeuLysAspHisCysArgThrThrProCysGluValIleAspSerCysThrValAlaMetAlaSerAsnAspThrProGluGlyValArgTyrIleSerSerAsnValCysGlyProHisGlyLysCysLysSerGlnSerGlyGlyLysPheThrCysAspCysAsnLysGlyPheThrGlyThrTyrCysHisGluAsnIleAsnAspCysGluSerAsnProCysArgAsnGlyGlyThrCysIleAspGlyValAsnSerTyrLysCysIleCysSerAspGlyTrpGluGlyAlaTyrCysGluThrAsnIleAsnAspCysSerGlnAsnProCysHisAsnGlyGlyThrCysArgAspLeuValAsnAspPheTyrCysAspCysLysAsnGlyTrpLysGlyLysThrCysHisSerArgAspSerGlnCysAspGluAlaThrCysAsnAsnGlyGlyThrCysTyrAspGluGlyAspAlaPheLysCysMetCysProGlyGlyTrpGluGlyThrThrCysAsnIleAlaArgAsnSerSerCysLeuProAsnProCysHisAsnGlyGlyThrCysValValAsnGlyGluSerPheThrCysValCysLysGluGlyTrpGluGlyProIleCysAlaGlnAsnThrAsnAspCysSerProHisProCysTyrAsnSerGlyThrCysValAspGlyAspAsnTrpTyrArgCysGluCysAlaProGlyPheAlaGlyProAspCysArgIleAsnIleAsnGluCysGlnSerSerProCysAlaPheGlyAlaThrCysValAspGluIleAsnGlyTyrArgCysValCysProProGlyHisSerGlyAlaLysCysGlnGluValSerGlyArgProCysIleThrMetGlySerValIleProAspGlyAlaLysTrpAspAspAspCysAsnThrCysGlnCysLeuAsnGlyArgIleAlaCysSerLysValTrpCysGlyProArgProCysLeuLeuHisLysGlyHisSerGluCysProSerGlyGlnSerCysIleProIleLeuAspAspGlnCysPheValHisProCysThrGlyValGlyGluCysArgSerSerSerLeuGlnProValLysThrLysCysThrSerAspSerTyrTyrGlnAspAsnCysAlaAsnIleThrPheThrPheAsnLysGluMetMetSerProGlyLeuThrThrGluHisIleCysSerGluLeuArgAsnLeuAsnIleLeuLysAsnValSerAlaGluTyrSerIleTyrIleAlaCysGluProSerProSerAlaAsnAsnGluIleHisValAlaIleSerAlaGluAspIleArgAspAspGlyAsnProIleLysGluIleThrAspLysIleIleAspLeuValSerLysArgAspGlyAsnSerSerLeuIleAlaAlaValAlaGluValArgValGlnArgArgProLeuLysAsnArgThrAspPheLeuValProLeuLeuSerSerValLeuThrValAlaTrpIleCysCysLeuValThrAlaPheTyrTrpCysLeuArgLysArgArgLysProGlySerHisThrHisSerAlaSerGluAspAsnThrThrAsnAsnValArgGluGlnLeuAsnGlnIleLysAsnProIleGluLysHisGlyAlaAsnThrValProIleLysAspTyrGluAsnLysAsnSerLysMetSerLysIleArgThrHisAsnSerGluValGluGluAspAspMetAspLysHisGlnGlnLysAlaArgPheAlaLysGlnProAlaTyrThrLeuValAspArgGluGluLysProProAsnGlyThrProThrLysHisProAsnTrpThrAsnLysGlnAspAsnArgAspLeuGluSerAlaGlnSerLeuAsnArgMetGluTyrIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000423891.6:n.631C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS287986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
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      "hgvs": [
        "ENST00000617965.1:n.134C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS403714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426829",
      "coordinates": [
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          "end": 1281,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
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      "hgvs": [
        "NM_000214.2:c.765C>A"
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      "proteinEffect": {
        "hgvs": "NP_000205.1:p.Tyr255Ter",
        "hgvsWellDefined": "NP_000205.1:p.Tyr255_Val1218delinsGlyTrpGlnGlyLeuTyrCysAspLysCysIleProHisProGlyCysValHisGlyIleCysAsnGluProTrpGlnCysLeuCysGluThrAsnTrpGlyGlyGlnLeuCysAspLysAspLeuAsnTyrCysGlyThrHisGlnProCysLeuAsnGlyGlyThrCysSerAsnThrGlyProAspLysTyrGlnCysSerCysProGluGlyTyrSerGlyProAsnCysGluIleAlaGluHisAlaCysLeuSerAspProCysHisAsnArgGlySerCysLysGluThrSerLeuGlyPheGluCysGluCysSerProGlyTrpThrGlyProThrCysSerThrAsnIleAspAspCysSerProAsnAsnCysSerHisGlyGlyThrCysGlnAspLeuValAsnGlyPheLysCysValCysProProGlnTrpThrGlyLysThrCysGlnLeuAspAlaAsnGluCysGluAlaLysProCysValAsnAlaLysSerCysLysAsnLeuIleAlaSerTyrTyrCysAspCysLeuProGlyTrpMetGlyGlnAsnCysAspIleAsnIleAsnAspCysLeuGlyGlnCysGlnAsnAspAlaSerCysArgAspLeuValAsnGlyTyrArgCysIleCysProProGlyTyrAlaGlyAspHisCysGluArgAspIleAspGluCysAlaSerAsnProCysLeuAsnGlyGlyHisCysGlnAsnGluIleAsnArgPheGlnCysLeuCysProThrGlyPheSerGlyAsnLeuCysGlnLeuAspIleAspTyrCysGluProAsnProCysGlnAsnGlyAlaGlnCysTyrAsnArgAlaSerAspTyrPheCysLysCysProGluAspTyrGluGlyLysAsnCysSerHisLeuLysAspHisCysArgThrThrProCysGluValIleAspSerCysThrValAlaMetAlaSerAsnAspThrProGluGlyValArgTyrIleSerSerAsnValCysGlyProHisGlyLysCysLysSerGlnSerGlyGlyLysPheThrCysAspCysAsnLysGlyPheThrGlyThrTyrCysHisGluAsnIleAsnAspCysGluSerAsnProCysArgAsnGlyGlyThrCysIleAspGlyValAsnSerTyrLysCysIleCysSerAspGlyTrpGluGlyAlaTyrCysGluThrAsnIleAsnAspCysSerGlnAsnProCysHisAsnGlyGlyThrCysArgAspLeuValAsnAspPheTyrCysAspCysLysAsnGlyTrpLysGlyLysThrCysHisSerArgAspSerGlnCysAspGluAlaThrCysAsnAsnGlyGlyThrCysTyrAspGluGlyAspAlaPheLysCysMetCysProGlyGlyTrpGluGlyThrThrCysAsnIleAlaArgAsnSerSerCysLeuProAsnProCysHisAsnGlyGlyThrCysValValAsnGlyGluSerPheThrCysValCysLysGluGlyTrpGluGlyProIleCysAlaGlnAsnThrAsnAspCysSerProHisProCysTyrAsnSerGlyThrCysValAspGlyAspAsnTrpTyrArgCysGluCysAlaProGlyPheAlaGlyProAspCysArgIleAsnIleAsnGluCysGlnSerSerProCysAlaPheGlyAlaThrCysValAspGluIleAsnGlyTyrArgCysValCysProProGlyHisSerGlyAlaLysCysGlnGluValSerGlyArgProCysIleThrMetGlySerValIleProAspGlyAlaLysTrpAspAspAspCysAsnThrCysGlnCysLeuAsnGlyArgIleAlaCysSerLysValTrpCysGlyProArgProCysLeuLeuHisLysGlyHisSerGluCysProSerGlyGlnSerCysIleProIleLeuAspAspGlnCysPheValHisProCysThrGlyValGlyGluCysArgSerSerSerLeuGlnProValLysThrLysCysThrSerAspSerTyrTyrGlnAspAsnCysAlaAsnIleThrPheThrPheAsnLysGluMetMetSerProGlyLeuThrThrGluHisIleCysSerGluLeuArgAsnLeuAsnIleLeuLysAsnValSerAlaGluTyrSerIleTyrIleAlaCysGluProSerProSerAlaAsnAsnGluIleHisValAlaIleSerAlaGluAspIleArgAspAspGlyAsnProIleLysGluIleThrAspLysIleIleAspLeuValSerLysArgAspGlyAsnSerSerLeuIleAlaAlaValAlaGluValArgValGlnArgArgProLeuLysAsnArgThrAspPheLeuValProLeuLeuSerSerValLeuThrValAlaTrpIleCysCysLeuValThrAlaPheTyrTrpCysLeuArgLysArgArgLysProGlySerHisThrHisSerAlaSerGluAspAsnThrThrAsnAsnValArgGluGlnLeuAsnGlnIleLysAsnProIleGluLysHisGlyAlaAsnThrValProIleLysAspTyrGluAsnLysAsnSerLysMetSerLysIleArgThrHisAsnSerGluValGluGluAspAspMetAspLysHisGlnGlnLysAlaArgPheAlaLysGlnProAlaTyrThrLeuValAspArgGluGluLysProProAsnGlyThrProThrLysHisProAsnTrpThrAsnLysGlnAspAsnArgAspLeuGluSerAlaGlnSerLeuAsnArgMetGluTyrIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426829",
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000205.1:p.Tyr255Ter",
        "hgvsWellDefined": "NP_000205.1:p.Tyr255_Val1218delinsGlyTrpGlnGlyLeuTyrCysAspLysCysIleProHisProGlyCysValHisGlyIleCysAsnGluProTrpGlnCysLeuCysGluThrAsnTrpGlyGlyGlnLeuCysAspLysAspLeuAsnTyrCysGlyThrHisGlnProCysLeuAsnGlyGlyThrCysSerAsnThrGlyProAspLysTyrGlnCysSerCysProGluGlyTyrSerGlyProAsnCysGluIleAlaGluHisAlaCysLeuSerAspProCysHisAsnArgGlySerCysLysGluThrSerLeuGlyPheGluCysGluCysSerProGlyTrpThrGlyProThrCysSerThrAsnIleAspAspCysSerProAsnAsnCysSerHisGlyGlyThrCysGlnAspLeuValAsnGlyPheLysCysValCysProProGlnTrpThrGlyLysThrCysGlnLeuAspAlaAsnGluCysGluAlaLysProCysValAsnAlaLysSerCysLysAsnLeuIleAlaSerTyrTyrCysAspCysLeuProGlyTrpMetGlyGlnAsnCysAspIleAsnIleAsnAspCysLeuGlyGlnCysGlnAsnAspAlaSerCysArgAspLeuValAsnGlyTyrArgCysIleCysProProGlyTyrAlaGlyAspHisCysGluArgAspIleAspGluCysAlaSerAsnProCysLeuAsnGlyGlyHisCysGlnAsnGluIleAsnArgPheGlnCysLeuCysProThrGlyPheSerGlyAsnLeuCysGlnLeuAspIleAspTyrCysGluProAsnProCysGlnAsnGlyAlaGlnCysTyrAsnArgAlaSerAspTyrPheCysLysCysProGluAspTyrGluGlyLysAsnCysSerHisLeuLysAspHisCysArgThrThrProCysGluValIleAspSerCysThrValAlaMetAlaSerAsnAspThrProGluGlyValArgTyrIleSerSerAsnValCysGlyProHisGlyLysCysLysSerGlnSerGlyGlyLysPheThrCysAspCysAsnLysGlyPheThrGlyThrTyrCysHisGluAsnIleAsnAspCysGluSerAsnProCysArgAsnGlyGlyThrCysIleAspGlyValAsnSerTyrLysCysIleCysSerAspGlyTrpGluGlyAlaTyrCysGluThrAsnIleAsnAspCysSerGlnAsnProCysHisAsnGlyGlyThrCysArgAspLeuValAsnAspPheTyrCysAspCysLysAsnGlyTrpLysGlyLysThrCysHisSerArgAspSerGlnCysAspGluAlaThrCysAsnAsnGlyGlyThrCysTyrAspGluGlyAspAlaPheLysCysMetCysProGlyGlyTrpGluGlyThrThrCysAsnIleAlaArgAsnSerSerCysLeuProAsnProCysHisAsnGlyGlyThrCysValValAsnGlyGluSerPheThrCysValCysLysGluGlyTrpGluGlyProIleCysAlaGlnAsnThrAsnAspCysSerProHisProCysTyrAsnSerGlyThrCysValAspGlyAspAsnTrpTyrArgCysGluCysAlaProGlyPheAlaGlyProAspCysArgIleAsnIleAsnGluCysGlnSerSerProCysAlaPheGlyAlaThrCysValAspGluIleAsnGlyTyrArgCysValCysProProGlyHisSerGlyAlaLysCysGlnGluValSerGlyArgProCysIleThrMetGlySerValIleProAspGlyAlaLysTrpAspAspAspCysAsnThrCysGlnCysLeuAsnGlyArgIleAlaCysSerLysValTrpCysGlyProArgProCysLeuLeuHisLysGlyHisSerGluCysProSerGlyGlnSerCysIleProIleLeuAspAspGlnCysPheValHisProCysThrGlyValGlyGluCysArgSerSerSerLeuGlnProValLysThrLysCysThrSerAspSerTyrTyrGlnAspAsnCysAlaAsnIleThrPheThrPheAsnLysGluMetMetSerProGlyLeuThrThrGluHisIleCysSerGluLeuArgAsnLeuAsnIleLeuLysAsnValSerAlaGluTyrSerIleTyrIleAlaCysGluProSerProSerAlaAsnAsnGluIleHisValAlaIleSerAlaGluAspIleArgAspAspGlyAsnProIleLysGluIleThrAspLysIleIleAspLeuValSerLysArgAspGlyAsnSerSerLeuIleAlaAlaValAlaGluValArgValGlnArgArgProLeuLysAsnArgThrAspPheLeuValProLeuLeuSerSerValLeuThrValAlaTrpIleCysCysLeuValThrAlaPheTyrTrpCysLeuArgLysArgArgLysProGlySerHisThrHisSerAlaSerGluAspAsnThrThrAsnAsnValArgGluGlnLeuAsnGlnIleLysAsnProIleGluLysHisGlyAlaAsnThrValProIleLysAspTyrGluAsnLysAsnSerLysMetSerLysIleArgThrHisAsnSerGluValGluGluAspAspMetAspLysHisGlnGlnLysAlaArgPheAlaLysGlnProAlaTyrThrLeuValAspArgGluGluLysProProAsnGlyThrProThrLysHisProAsnTrpThrAsnLysGlnAspAsnArgAspLeuGluSerAlaGlnSerLeuAsnArgMetGluTyrIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254958.10:c.765C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000214.3:c.765C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254958.4:p.Tyr255Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000205.1:p.Tyr255Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}