{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274241",
  "communityStandardTitle": [
    "NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102502[alleleid]",
        "alleleId": 102502,
        "preferredName": "NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96609",
        "RCV": [
          "RCV000169389",
          "RCV001826771",
          "RCV000790821"
        ],
        "variationId": 96609
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80910707C>T?assembly=hg19",
        "id": "chr6:g.80910707C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80200990C>T?assembly=hg38",
        "id": "chr6:g.80200990C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124594",
        "rs": 398124594
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80910707-C-T?dataset=gnomad_r2_1",
        "id": "6-80910707-C-T",
        "variant": "6:80910707 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80200990-C-T?dataset=gnomad_r3",
        "id": "6-80200990-C-T",
        "variant": "6:80200990 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80200990-C-T?dataset=gnomad_r4",
        "id": "6-80200990-C-T",
        "variant": "6:80200990 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80200990,
          "referenceAllele": "C",
          "start": 80200989
        }
      ],
      "hgvs": [
        "NC_000006.12:g.80200990C>T",
        "CM000668.2:g.80200990C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80910707,
          "referenceAllele": "C",
          "start": 80910706
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80910707C>T",
        "CM000668.1:g.80910707C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80967426,
          "referenceAllele": "C",
          "start": 80967425
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80967426C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99364,
          "referenceAllele": "C",
          "start": 99363
        }
      ],
      "hgvs": [
        "NG_009775.1:g.99364C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99364,
          "referenceAllele": "C",
          "start": 99363
        }
      ],
      "hgvs": [
        "NG_009775.2:g.99364C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.9:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Gln267Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Gln267Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Gln267Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.8:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Gln267Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000356489.9:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348880.5:p.Gln267Ter",
        "hgvsWellDefined": "ENSP00000348880.5:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274243",
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_000047.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274242",
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_898871.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_005248813.1:p.Gln267_Asn360delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnIleTyrProHisGluArgThrSerValLysPheSerValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_006715542.2:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715605.1:p.Gln197Ter",
        "hgvsWellDefined": "XP_006715605.1:p.Gln197_Tyr322delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534325.1:p.Gln267_Leu359delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnMetSerValIleGlnSerValCysAspLeuProIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534326.1:p.Gln267_Asp353delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534327.1:p.Gln267_Phe350delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536026.1:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534328.1:p.Gln197Ter",
        "hgvsWellDefined": "XP_011534328.1:p.Gln197_Tyr322delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274243",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.4:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_000047.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026683",
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_001318975.1:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305904.1:p.Gln197Ter",
        "hgvsWellDefined": "NP_001305904.1:p.Gln197_Tyr322delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274242",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_898871.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.1:n.977C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.5:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_005248813.1:p.Gln267_Asn360delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnIleTyrProHisGluArgThrSerValLysPheSerValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534325.1:p.Gln267_Leu359delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnMetSerValIleGlnSerValCysAspLeuProIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534326.1:p.Gln267_Asp353delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011534327.1:p.Gln267_Phe350delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743547.2:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743548.2:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743549.2:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_002956292.1:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274242",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_898871.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Gln267Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Gln267Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274243",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_000047.1:p.Gln267_Tyr392delinsGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}