{
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  "communityStandardTitle": [
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        "preferredName": "NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370557",
        "RCV": [
          "RCV000409010"
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        "variationId": 370557
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        "@id": "http://myvariant.info/v1/variant/chr11:g.68540762G>A?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
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    {
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        {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1989
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466334",
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        {
          "allele": "T",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001867.2:p.Gln571_Lys773delinsLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrAspSerHisArgPheGlyArgHisLeuLysGluAlaMetThrAspIleIleThrLeuPheGlyLeuSerSerAsnSerLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_001867.2:p.Gln571Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825358508",
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.1711C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Gln571Ter",
        "hgvsWellDefined": "NP_001027017.1:p.Gln571_Thr756delinsLeuAlaLeuGlnLeuAlaHisTyrLysAspMetGlyLysPheCysLeuThrTyrGluAlaSerMetThrArgLeuPheArgGluGlyArgThrGluThrValArgSerCysThrThrGluSerCysAspPheValArgAlaMetValAspProAlaGlnThrValGluGlnArgLeuLysLeuPheLysLeuAlaSerGluLysHisGlnHisMetTyrArgLeuAlaMetThrGlySerGlyIleAspArgHisLeuPheCysLeuTyrValValSerLysTyrLeuAlaValGluSerProPheLeuLysGluValLeuSerGluProTrpArgLeuSerThrSerGlnThrProGlnGlnGlnValGluLeuPheAspLeuGluAsnAsnProGluTyrValSerSerGlyGlyGlyPheGlyProValAlaAspAspGlyTyrGlyValSerTyrIleLeuValGlyGluAsnLeuIleAsnPheHisIleSerSerLysPheSerCysProGluThrGlyIleIleSerGlnGlyProSerSerAspThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}