{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406023144",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2418828[alleleid]",
        "alleleId": 2418828,
        "preferredName": "NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2445876",
        "RCV": [
          "RCV003155795"
        ],
        "variationId": 2445876
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41903764G>A?assembly=hg19",
        "id": "chr19:g.41903764G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41397859G>A?assembly=hg38",
        "id": "chr19:g.41397859G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513443827",
        "rs": 2513443827
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41397859-G-A?dataset=gnomad_r4",
        "id": "19-41397859-G-A",
        "variant": "19:41397859 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41397859,
          "referenceAllele": "G",
          "start": 41397858
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41397859G>A",
        "CM000681.2:g.41397859G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41903764,
          "referenceAllele": "G",
          "start": 41903763
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41903764G>A",
        "CM000681.1:g.41903764G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46595604,
          "referenceAllele": "G",
          "start": 46595603
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46595604G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5071,
          "referenceAllele": "G",
          "start": 5070
        }
      ],
      "hgvs": [
        "NG_013004.1:g.5071G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000269980.2:p.Trp11_Lys445delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.32G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.32G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Trp11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Trp11Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000269980.2:p.Trp11_Lys445delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "referenceAllele": "G",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000416000.2:p.Trp11_Lys448delinsArgLeuAsnArgGlyLeuSerGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrSerSerSerProIleLeuProProAspProHisSerArgGluProThrLeuThrTrpGlyProLeuProLeuCysArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000538423.5:n.52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 12777,
          "referenceAllele": "G",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 12778
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.211-12778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:n.211-12778G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "referenceAllele": "G",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000440345.1:p.Trp11Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000471150.2:p.Trp11_Ile403delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrThrAlaThrGlyGlyProLysAlaArgAlaSerValGlyProSerSerProSerThrThrGlyThrCysGlyIleMetMetProLeuHisAlaMetGlyLeuTrpHisProValSerHisGlnGlnGluLeuSerAlaAlaProLysProLysGlyThrThrLysProIleLeuGluSerTyrLeuLysSerHisLeuLeuGlyHisSerArgTyrGlnLeuTyrIleHisGlnAspAlaValArgArgGluLysProGlnSerAsnLeuAsnArgGluSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 12777,
          "referenceAllele": "G",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 12778
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.351-12778G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241170",
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_000700.1:p.Trp11_Lys445delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573183025",
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Trp11_Lys444delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241170",
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_000700.1:p.Trp11_Lys445delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.32G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.32G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Trp11Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Trp11Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573183025",
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "G",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.32G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Trp11_Lys444delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}