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      "proteinEffect": {
        "hgvs": "XP_005262892.1:p.Arg4270Ter",
        "hgvsWellDefined": "XP_005262892.1:p.Arg4270_Val4600delinsAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGluSerLeuAlaAlaProAspLeuSerLysProArgGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13169,
          "referenceAllele": "C",
          "start": 13168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.3:c.12808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:p.Arg4270Ter",
        "hgvsWellDefined": "XP_006714202.1:p.Arg4270_Val4588delinsAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270593",
      "coordinates": [
        {
          "allele": "T",
          "end": 13019,
          "referenceAllele": "C",
          "start": 13018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.4:c.12808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:p.Arg4270Ter",
        "hgvsWellDefined": "NP_005236.2:p.Arg4270_Val4588delinsAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.12808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.12808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:p.Arg4270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:p.Arg4270Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}