{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358418013",
  "communityStandardTitle": [
    "NM_031956.4(TTC29):c.750C>G (p.Tyr250Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.147795917G>C?assembly=hg19",
        "id": "chr4:g.147795917G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.146874765G>C?assembly=hg38",
        "id": "chr4:g.146874765G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763399136",
        "rs": 763399136
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-146874765-G-C?dataset=gnomad_r4",
        "id": "4-146874765-G-C",
        "variant": "4:146874765 G / C"
      }
    ]
  },
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    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 146874765,
          "referenceAllele": "G",
          "start": 146874764
        }
      ],
      "hgvs": [
        "NC_000004.12:g.146874765G>C",
        "CM000666.2:g.146874765G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 147795917,
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          "start": 147795916
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      ],
      "hgvs": [
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        "CM000666.1:g.147795917G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "start": 148015366
        }
      ],
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        "NC_000004.10:g.148015367G>C"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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        "ENST00000325106.9:c.750C>G"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_031956.4:c.750C>G"
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        },
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          }
        }
      }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258440"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000381861.5:p.Tyr250_Pro319delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysSerProGlnThrTrpMetMetIleSerValTrpGlyGluAlaMetLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278454"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000425778.1:p.Tyr250_Thr474delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336486"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000422648.1:p.Tyr250_Lys363delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnArgAspMetSerLeuSerSerAsnAsnSerHisLeuLeuAlaLeuLeuLeuIleTrpAsnIleLeuAlaSerPheProGlyPheGluPheLeuValAspSerValLysAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339359"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000423505.1:p.Tyr276_Thr501delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018929",
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        {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001287690.1:p.Tyr276_Thr501delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830075049",
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      "gene": "http://reg.genome.network/gene/GN029936",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038765"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005263327.1:p.Tyr276_Thr492delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGluGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063743"
    },
    {
      "coordinates": [
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        "hgvsWellDefined": "XP_006714398.1:p.Tyr276_Thr500delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070605"
    },
    {
      "coordinates": [
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070606"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006714401.1:p.Tyr250_Thr474delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070607"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006714402.1:p.Tyr214Ter",
        "hgvsWellDefined": "XP_006714402.1:p.Tyr214_Thr439delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070608"
    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS538700"
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      "referenceSequence": "http://reg.genome.network/refseq/RS550784"
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      "referenceSequence": "http://reg.genome.network/refseq/RS587610"
    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS684319"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS703445"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826971391",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830075049",
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        {
          "allele": "G",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_114162.2:p.Tyr250_Thr475delinsLysGlnAlaIleLysIleLeuIleLysAlaSerGluIleAlaLysGluGlySerAspLysLysMetGluAlaGluAlaSerTyrTyrLeuGlyLeuAlaHisLeuAlaAlaGluGluTyrGluThrAlaLeuThrValLeuAspThrTyrCysLysIleSerThrAspLeuAspAspAspLeuSerLeuGlyArgGlyTyrGluAlaIleAlaLysValLeuGlnSerGlnGlyGluMetThrGluAlaIleLysTyrLeuLysLysPheValLysIleAlaArgAsnAsnPheGlnSerLeuAspLeuValArgAlaSerThrMetLeuGlyAspIleTyrAsnGluLysGlyTyrTyrAsnLysAlaSerGluCysPheGlnGlnAlaPheAspThrThrValGluLeuMetSerMetProLeuMetAspGluThrLysValHisTyrGlyIleAlaLysAlaHisGlnMetMetLeuThrValAsnAsnTyrIleGluSerAlaAspLeuThrSerLeuAsnTyrLeuLeuSerTrpLysGluSerArgGlyAsnIleGluProAspProValThrGluGluPheArgGlySerThrValGluAlaValSerGlnAsnSerGluArgLeuGluGluLeuSerArgPheProGlyAspGlnLysAsnGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325106.9:c.750C>G"
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          "RefSeq": {
            "hgvs": "NM_031956.4:c.750C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316740.4:p.Tyr250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114162.2:p.Tyr250Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN029936",
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      "geneSymbol": "TTC29",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS730839"
    }
  ],
  "type": "nucleotide"
}