{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339792",
  "communityStandardTitle": [
    "NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15179[alleleid]",
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140",
        "RCV": [
          "RCV000000163"
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        "variationId": 140
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        "@id": "http://myvariant.info/v1/variant/chr20:g.746208C>A?assembly=hg19",
        "id": "chr20:g.746208C>A"
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        "@id": "http://myvariant.info/v1/variant/chr20:g.765564C>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606683",
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      "referenceSequence": "http://reg.genome.network/refseq/RS757099"
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      "referenceSequence": "http://reg.genome.network/refseq/RS768409",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS774938"
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      "referenceSequence": "http://reg.genome.network/refseq/RS248079"
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      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339793",
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      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Glu71Ter",
        "hgvsWellDefined": "NP_212134.3:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Glu71Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Glu71Ter",
        "hgvsWellDefined": "XP_011527450.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Glu71Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Glu71Ter",
        "hgvsWellDefined": "XP_024307589.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339793",
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Glu71Ter",
        "hgvsWellDefined": "NP_212134.3:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.211G>T"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.211G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Glu71Ter"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Glu71Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374830",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Glu71Ter",
        "hgvsWellDefined": "NP_001357014.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375184",
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Glu71Ter",
        "hgvsWellDefined": "NP_001357015.1:p.Glu71_Ala469delinsValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}