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  "@id": "http://reg.genome.network/allele/CA406005057",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2162322[alleleid]",
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2104559",
        "RCV": [
          "RCV003014725"
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        "variationId": 2104559
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41916710G>T?assembly=hg19",
        "id": "chr19:g.41916710G>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr19:g.41410805G>T?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/753452195",
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      "referenceGenome": "GRCh37",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
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      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
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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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      "referenceSequence": "http://reg.genome.network/refseq/RS362863"
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      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
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      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
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      "@id": "http://reg.genome.network/allele/PA2580151245",
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      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
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      "@id": "http://reg.genome.network/allele/PA2825241307",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000709.4:c.277G>T"
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        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
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      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151245",
      "coordinates": [
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.277G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Glu93Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Glu93_Lys444delinsAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}