{
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  "@id": "http://reg.genome.network/allele/CA346468431",
  "communityStandardTitle": [
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        "RCV": [
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          "RCV003229865"
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        "variationId": 654329
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        "@id": "http://myvariant.info/v1/variant/chr2:g.29430037C>T?assembly=hg19",
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    {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
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      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
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      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
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    },
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      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Trp1313Ter",
        "hgvsWellDefined": "NP_004295.2:p.Trp1313_Pro1620delinsSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3938G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3938G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Trp1313Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Trp1313Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Trp245Ter",
        "hgvsWellDefined": "NP_001340694.1:p.Trp245_Pro552delinsSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}