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  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=330591",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941504",
        "RCV": [
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS271267"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027375"
    },
    {
      "coordinates": [
        {
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    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS555415"
    },
    {
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        {
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        "hgvs": "XP_024308131.1:n.-29-549C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741888902",
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.4:c.186C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Tyr62Ter",
        "hgvsWellDefined": "NP_002040.1:p.Tyr63_Ser413delinsArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.186C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.186C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Tyr62Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Tyr62Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}