{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406004912",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784206[alleleid]",
        "alleleId": 1784206,
        "preferredName": "NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726679",
        "RCV": [
          "RCV002310363"
        ],
        "variationId": 1726679
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41916686C>T?assembly=hg19",
        "id": "chr19:g.41916686C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41410781C>T?assembly=hg38",
        "id": "chr19:g.41410781C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513452174",
        "rs": 2513452174
      }
    ]
  },
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    {
      "chromosome": "19",
      "coordinates": [
        {
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          "end": 41410781,
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
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          "start": 41916685
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
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          "start": 46608525
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      ],
      "hgvs": [
        "NC_000019.8:g.46608526C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17993,
          "referenceAllele": "C",
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      ],
      "hgvs": [
        "NG_013004.1:g.17993C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
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          "start": 620
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
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          "end": 192,
          "referenceAllele": "C",
          "start": 191
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      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.187C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000416000.2:p.Gln63_Lys448delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrSerSerSerProIleLeuProProAspProHisSerArgGluProThrLeuThrTrpGlyProLeuProLeuCysArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000443246.1:p.Gln119_Lys479delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
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      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000541315.1:c.60C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS362863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
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      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000440345.1:p.Gln85Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000471150.2:p.Gln85_Ile403delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrThrAlaThrGlyGlyProLysAlaArgAlaSerValGlyProSerSerProSerThrThrGlyThrCysGlyIleMetMetProLeuHisAlaMetGlyLeuTrpHisProValSerHisGlnGlnGluLeuSerAlaAlaProLysProLysGlyThrThrLysProIleLeuGluSerTyrLeuLysSerHisLeuLeuGlyHisSerArgTyrGlnLeuTyrIleHisGlnAspAlaValArgArgGluLysProGlnSerAsnLeuAsnArgGluSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.495C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241296",
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        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
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        "hgvsWellDefined": "NP_000700.1:p.Gln85_Lys445delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151240",
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "geneSymbol": "BCKDHA",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001158255.1:p.Gln85_Lys444delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241296",
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
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      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.253C>T"
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      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Gln85Ter",
        "hgvsWellDefined": "NP_000700.1:p.Gln85_Lys445delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.253C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Gln85Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Gln85Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151240",
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Gln85Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Gln85_Lys444delinsGlyGlnIleIleAsnProSerGluAspProHisLeuProLysGluLysValLeuLysLeuTyrLysSerMetThrLeuLeuAsnThrMetAspArgIleLeuTyrGluSerGlnArgGlnGlyArgIleSerPheTyrMetThrAsnTyrGlyGluGluGlyThrHisValGlySerAlaAlaAlaLeuAspAsnThrAspLeuValPheGlyGlnTyrArgGluAlaGlyValLeuMetTyrArgAspTyrProLeuGluLeuPheMetAlaGlnCysTyrGlyAsnIleSerAspLeuGlyLysGlyArgGlnMetProValHisTyrGlyCysLysGluArgHisPheValThrIleSerSerProLeuAlaThrGlnIleProGlnAlaValGlyAlaAlaTyrAlaAlaLysArgAlaAsnAlaAsnArgValValIleCysTyrPheGlyGluGlyAlaAlaSerGluGlyAspAlaHisAlaGlyPheAsnPheAlaAlaThrLeuGluCysProIleIlePhePheCysArgAsnAsnGlyTyrAlaIleSerThrProThrSerGluGlnTyrArgGlyAspGlyIleAlaArgGlyProGlyTyrGlyIleMetSerIleArgValAspGlyAsnAspValPheAlaValTyrAsnAlaThrLysGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}