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  "@id": "http://reg.genome.network/allele/CA185948",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)"
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180687",
        "RCV": [
          "RCV000157642",
          "RCV000477678"
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      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24291215T>A?assembly=hg19",
        "id": "chr6:g.24291215T>A"
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        "id": "chr6:g.24290987T>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880299",
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    },
    {
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    },
    {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
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      "@id": "http://reg.genome.network/allele/PA2826209526",
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        "hgvsWellDefined": "NP_001182539.1:p.Lys217_Ala476delinsLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
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          "start": 950
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA185949",
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        "hgvsWellDefined": "NP_057440.2:p.Lys217_Ala476delinsLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
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          "RefSeq": {
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        "protein": {
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    {
      "@id": "http://reg.genome.network/allele/PA2826209526",
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      "gene": "http://reg.genome.network/gene/GN018141",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001182539.1:p.Lys217_Ala476delinsLeuProTyrSerGluLeuLeuPheAspLysSerThrMetArgArgProPheGlyGlnLysAlaSerSerLeuProProIleValGlySerArgLysSerLysGlySerGlyAsnAspArgHisSerLysSerThrValGlySerSerAspAsnSerSerProGlnProLeuLysArgLysGlyLysLysGluAspValAsnSerGluLysLeuThrLysLeuLysGlnAsnValLysLeuLysAsnSerGlnGluThrIleProAsnSerAspGluGlyIlePheLysAlaGlyAlaGluArgSerGluThrArgGlyAlaAlaGluValGlnGluAspGluAspThrGlnValGluValProValAspGlnArgProAlaGluIleValAspGluGluGluAspGlyGluLysAlaAsnLysAspAlaGluGlnLysGluAspPheSerGlyMetAsnGlyAspLeuGluGluGluGlyGlyArgGluAlaThrAspAlaProGluGlnValGluGluIleLeuAspHisSerGluGlnGlnAlaArgProAlaArgValAsnGlyGlyThrAspGluGluAsnGlyGluGluLeuGlnGlnValAsnAsnGluLeuGlnLeuValLeuAspLysGluArgLysSerGlnGlyAlaGlySerGlyGlnAspGluAlaAspValAspProGlnArgProProArgProGluValLysIleThrSerProGluGluAsnGluAsnAsnGlnGlnAsnLysAspTyrAlaAlaValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}