{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8565519",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.343C>T (p.Arg115Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1477770[alleleid]",
        "alleleId": 1477770,
        "preferredName": "NM_002230.4(JUP):c.343C>T (p.Arg115Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1457031",
        "RCV": [
          "RCV001947032",
          "RCV002458886"
        ],
        "variationId": 1457031
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39925795-G-A",
        "id": "17-39925795-G-A",
        "variant": "17:39925795 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39925795G>A?assembly=hg19",
        "id": "chr17:g.39925795G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41769543G>A?assembly=hg38",
        "id": "chr17:g.41769543G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782203227",
        "rs": 782203227
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39925795-G-A?dataset=gnomad_r2_1",
        "id": "17-39925795-G-A",
        "variant": "17:39925795 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41769543-G-A?dataset=gnomad_r4",
        "id": "17-41769543-G-A",
        "variant": "17:41769543 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41769543,
          "referenceAllele": "G",
          "start": 41769542
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41769543G>A",
        "CM000679.2:g.41769543G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39925795,
          "referenceAllele": "G",
          "start": 39925794
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39925795G>A",
        "CM000679.1:g.39925795G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37179321,
          "referenceAllele": "G",
          "start": 37179320
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37179321G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22170,
          "referenceAllele": "C",
          "start": 22169
        }
      ],
      "hgvs": [
        "NG_009090.2:g.22170C>T",
        "LRG_401:g.22170C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000377508.3:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.343C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.343C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Arg115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Arg115Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000311113.5:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000377507.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000377508.3:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000420370.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411449.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000411449.1:p.Arg115_Leu277del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000424457.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401034.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000401034.1:p.Arg115Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000437187.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394146.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000394146.1:p.Arg115_Ala296del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000449889.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389886.1:p.Arg115Ter",
        "hgvsWellDefined": "ENSP00000389886.1:p.Arg115_Gly298del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368192",
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.343C>T",
        "LRG_401t2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_002221.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573280534",
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.343C>T",
        "LRG_401t1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_068831.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_006721936.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_006721937.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_006721938.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_006721941.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523055.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523056.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523057.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523058.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523059.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523060.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677483",
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339702.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678351",
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339703.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679219",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339704.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680086",
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339705.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680955",
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339706.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368192",
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_002221.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573280534",
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_068831.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_006721937.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_011523055.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Arg132Ter",
        "hgvsWellDefined": "XP_016880077.1:p.Arg132_Ala762delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Arg115Ter",
        "hgvsWellDefined": "XP_016880079.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368192",
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_002221.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.343C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.343C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Arg115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Arg115Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677483",
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339702.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678351",
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339703.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679219",
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339704.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680086",
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339705.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680955",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_001339706.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573280534",
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Arg115Ter",
        "hgvsWellDefined": "NP_068831.1:p.Arg115_Ala745delinsLeuAlaGluProSerGlnLeuLeuLysSerAlaIleValHisLeuIleAsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaLeuProGluLeuThrLysLeuLeuAsnAspGluAspProValValValThrLysAlaAlaMetIleValAsnGlnLeuSerLysLysGluAlaSerArgArgAlaLeuMetGlySerProGlnLeuValAlaAlaValValArgThrMetGlnAsnThrSerAspLeuAspThrAlaArgCysThrThrSerIleLeuHisAsnLeuSerHisHisArgGluGlyLeuLeuAlaIlePheLysSerGlyGlyIleProAlaLeuValArgMetLeuSerSerProValGluSerValLeuPheTyrAlaIleThrThrLeuHisAsnLeuLeuLeuTyrGlnGluGlyAlaLysMetAlaValArgLeuAlaAspGlyLeuGlnLysMetValProLeuLeuAsnLysAsnAsnProLysPheLeuAlaIleThrThrAspCysLeuGlnLeuLeuAlaTyrGlyAsnGlnGluSerLysLeuIleIleLeuAlaAsnGlyGlyProGlnAlaLeuValGlnIleMetArgAsnTyrSerTyrGluLysLeuLeuTrpThrThrSerArgValLeuLysValLeuSerValCysProSerAsnLysProAlaIleValGluAlaGlyGlyMetGlnAlaLeuGlyLysHisLeuThrSerAsnSerProArgLeuValGlnAsnCysLeuTrpThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}