{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212715",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.71C>A (p.Ser24Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209378[alleleid]",
        "alleleId": 209378,
        "preferredName": "NM_002230.4(JUP):c.71C>A (p.Ser24Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212748",
        "RCV": [
          "RCV000194470"
        ],
        "variationId": 212748
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39928036G>T?assembly=hg19",
        "id": "chr17:g.39928036G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41771784G>T?assembly=hg38",
        "id": "chr17:g.41771784G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782460555",
        "rs": 782460555
      }
    ]
  },
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    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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        "CM000679.2:g.41771784G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39928036,
          "referenceAllele": "G",
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 37181562,
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        }
      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
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        {
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        }
      ],
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        "LRG_401:g.19929C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
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          "start": 202
        }
      ],
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      "geneNCBI_id": 3728,
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      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
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        "maneVersion": "1.3",
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        },
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            "hgvs": "ENSP00000377508.3:p.Ser24Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser24Ter"
          }
        }
      }
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    {
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        {
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
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        }
      ],
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        "hgvsWellDefined": "ENSP00000377508.3:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS286287"
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    },
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      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_002221.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212719",
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.71C>A",
        "LRG_401t1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_068831.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_006721936.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_006721937.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_006721938.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_006721941.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523055.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523056.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523057.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "referenceAllele": "C",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523058.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523059.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523060.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677365",
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339702.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678233",
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339703.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679102",
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339704.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679969",
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339705.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680838",
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339706.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212718",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_002221.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212719",
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_068831.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_006721937.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_011523055.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.122C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ser41Ter",
        "hgvsWellDefined": "XP_016880077.1:p.Ser41_Ala762delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ser24Ter",
        "hgvsWellDefined": "XP_016880079.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212718",
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_002221.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.71C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.71C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ser24Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ser24Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677365",
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339702.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678233",
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339703.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679102",
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339704.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679969",
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339705.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680838",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_001339706.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA212719",
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.71C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ser24Ter",
        "hgvsWellDefined": "NP_068831.1:p.Ser24_Ala745delinsGlyIleHisSerGlyAlaAsnThrCysValProSerValSerSerLysGlyIleMetGluGluAspGluAlaCysGlyArgGlnTyrThrLeuLysLysThrThrThrTyrThrGlnGlyValProProSerGlnGlyAspLeuGluTyrGlnMetSerThrThrAlaArgAlaLysArgValArgGluAlaMetCysProGlyValSerGlyGluAspSerSerLeuLeuLeuAlaThrGlnValGluGlyGlnAlaThrAsnLeuGlnArgLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}