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  "@id": "http://reg.genome.network/allele/CA255988",
  "communityStandardTitle": [
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  "externalRecords": {
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3558086",
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        "id": "COSM3558086"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3558087",
        "active": true,
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      }
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      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11689",
        "RCV": [
          "RCV000012455",
          "RCV000579176",
          "RCV000692634"
        ],
        "variationId": 11689
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132887946G>A?assembly=hg19",
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      }
    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chrX:g.133753919G>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894855",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_004484.4:c.595C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
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      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
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      "@id": "http://reg.genome.network/allele/PA2825995995",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996487",
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      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Arg183Ter",
        "hgvsWellDefined": "NP_001158090.1:p.Arg183_His564delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997102",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Arg145Ter",
        "hgvsWellDefined": "NP_001158091.1:p.Arg145_His526delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255990",
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.595C>T",
        "LRG_505t1:c.595C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Arg199Ter",
        "hgvsWellDefined": "NP_004475.1:p.Arg199_His580delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "XM_017029413.2:c.595C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884902.1:p.Arg199Ter",
        "hgvsWellDefined": "XP_016884902.1:p.Arg199_Leu486delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrIleGlnLysAsnThrGluGluProPheLeuProLeuPheThrThrTyrSerArgAspAlaThrGlnGluLysAsnProProGlyThrLeuPheProValSerAspLeuProLeuSerGlnThrCysLeuGluSerValLysSerAspCysLeuGlyGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825995995",
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.595C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Arg199Ter",
        "hgvsWellDefined": "NP_001158089.1:p.Arg199_His603delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996487",
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Arg183Ter",
        "hgvsWellDefined": "NP_001158090.1:p.Arg183_His564delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997102",
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Arg145Ter",
        "hgvsWellDefined": "NP_001158091.1:p.Arg145_His526delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255990",
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.595C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Arg199Ter",
        "hgvsWellDefined": "NP_004475.1:p.Arg199_His580delinsGlyAlaArgArgAspLeuLysValPheGlyAsnPheProLysLeuIleMetThrGlnValSerLysSerLeuGlnValThrArgIlePheLeuGlnAlaLeuAsnLeuGlyIleGluValIleAsnThrThrAspHisLeuLysPheSerLysAspCysGlyArgMetLeuThrArgMetTrpTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.595C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.595C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Arg199Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Arg199Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}