{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406023147",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1454816[alleleid]",
        "alleleId": 1454816,
        "preferredName": "NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1456714",
        "RCV": [
          "RCV001951278"
        ],
        "variationId": 1456714
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41903765G>A?assembly=hg19",
        "id": "chr19:g.41903765G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41397860G>A?assembly=hg38",
        "id": "chr19:g.41397860G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1207966026",
        "rs": 1207966026
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41397860,
          "referenceAllele": "G",
          "start": 41397859
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41397860G>A",
        "CM000681.2:g.41397860G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41903765,
          "referenceAllele": "G",
          "start": 41903764
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      ],
      "hgvs": [
        "NC_000019.9:g.41903765G>A",
        "CM000681.1:g.41903765G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
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          "end": 46595605,
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          "start": 46595604
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
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          "end": 5072,
          "referenceAllele": "G",
          "start": 5071
        }
      ],
      "hgvs": [
        "NG_013004.1:g.5072G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000709.4:c.33G>A"
          }
        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_000700.1:p.Trp11Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 401,
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          "start": 400
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
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      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.33G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000416000.2:p.Trp11_Lys448delinsArgLeuAsnArgGlyLeuSerGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrSerSerSerProIleLeuProProAspProHisSerArgGluProThrLeuThrTrpGlyProLeuProLeuCysArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000538423.5:n.53G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 12776,
          "referenceAllele": "G",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 12777
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.211-12777G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:n.211-12777G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "G",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Trp11Ter",
        "hgvsWellDefined": "ENSP00000440345.1:p.Trp11Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.33G>A"
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      "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": 12776,
          "referenceAllele": "G",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 12777
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.351-12777G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241170",
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.33G>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": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.33G>A"
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      "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": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.33G>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.33G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.33G>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": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.33G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Trp11Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Trp11_Lys444delinsArgLeuAsnArgGlyLeuSerGlnAlaAlaLeuLeuLeuLeuArgGlnProGlyAlaArgGlyLeuAlaArgSerHisProProArgGlnGlnGlnGlnPheSerSerLeuAspAspLysProGlnPheProGlyAlaSerAlaGluPheIleAspLysLeuGluPheIleGlnProAsnValIleSerGlyIleProIleTyrArgValMetAspArgGlnGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}