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  "@id": "http://reg.genome.network/allele/CA121806",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.581C>G (p.Ser194Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11953",
        "RCV": [
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      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.598C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121807",
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.581C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ser194Ter",
        "hgvsWellDefined": "NP_001909.3:p.Ser194_Lys482delinsGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValGlyGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081237",
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.581C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Ser194Ter",
        "hgvsWellDefined": "NP_001909.4:p.Ser194_Lys482delinsGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.581C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.581C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ser194Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ser194Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829289932",
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Ser13Ter",
        "hgvsWellDefined": "NP_001386898.1:p.Ser13_Lys301delinsGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829290040",
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Ser13Ter",
        "hgvsWellDefined": "NP_001386901.1:p.Ser13_Lys301delinsGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.413C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.595C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 1190,
          "referenceAllele": "C",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.570-1191C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.595C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}