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  "@id": "http://reg.genome.network/allele/CA406004562",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064719[alleleid]",
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        "preferredName": "NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069052",
        "RCV": [
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        "variationId": 1069052
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41916563C>T?assembly=hg19",
        "id": "chr19:g.41916563C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1220443382",
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    {
      "chromosome": "19",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
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      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
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      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
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      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241233",
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      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Gln44Ter",
        "hgvsWellDefined": "NP_000700.1:p.Gln44_Lys445delinsPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Gln44Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Gln44Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499240473",
      "coordinates": [
        {
          "allele": "T",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Gln44Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Gln44_Lys444delinsPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}