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  "@id": "http://reg.genome.network/allele/CA141864468",
  "communityStandardTitle": [
    "NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3176062",
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        "id": "COSM3176062"
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        "preferredName": "NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438153",
        "RCV": [
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          "RCV000505126",
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          "RCV001382408",
          "RCV001834629"
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        "variationId": 438153
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      "proteinEffect": {
        "hgvs": "XP_005248722.1:p.Arg280Ter",
        "hgvsWellDefined": "XP_005248722.1:p.Arg280_Arg697delinsLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825586927",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_001122769.3:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116241.1:p.Arg280Ter",
        "hgvsWellDefined": "NP_001116241.1:p.Arg280_Arg697delinsLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369846.9:c.838C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122769.3:c.838C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358861.4:p.Arg280Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116241.1:p.Arg280Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509923",
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_181714.4:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_859065.2:p.Arg280Ter",
        "hgvsWellDefined": "NP_859065.2:p.Arg280_Arg697delinsLeuTyrHisLysLeuLysGluLysGluArgGluLeuAspIleLysAsnIleTyrSerAsnArgLeuProLysSerSerProAsnLysGluLysGluLeuAlaLeuArgLysAsnAlaAlaCysGlnSerAspPheAlaAspLeuCysThrLysGlyValGlnThrMetGluAspPheLysProGluGluTyrProLeuThrProGluThrIleMetCysTyrGluAsnLysTrpGluGluProGlyHisLeuThrLeuAspLeuGlnSerGlnLysGlnAspArgHisGlyGluAlaGlyIleLeuAsnProIleMetGluArgGluGluLysPheValThrAspGluGluLeuHisValValLysGlnGluValGluLysLeuGluAspGluTrpGluArgGluGluLeuAspLysLysGlnLysGluLysAlaSerLeuLeuGluArgGluGluLysProGluTrpGluThrGlyArgTyrGlnLeuGlyMetTyrProIleGlnAsnMetAspLysLeuGlnGlyGluGluGluGluArgLeuLysArgGluMetLeuLeuAlaLysLeuAsnGluIleAspArgGluLeuGlnAspSerArgAsnLeuLysTyrProValLeuProLeuLeuProAspPheGluSerLysLeuHisSerProGluArgSerProLysThrTyrArgPheSerGluSerSerGluArgLeuPheAsnGlyHisHisLeuGlnAspIleSerPheSerThrProLysGlyGluGlyGlnAsnSerGlyAsnValArgSerProAlaSerProAsnGluPheAlaPheGlySerTyrValProSerPheAlaLysThrSerGluArgSerAsnProPheSerGlnLysSerSerPheLeuAspPheGlnArgAsnSerMetGluLysLeuSerLysAspGlyValAspLeuIleThrArgLysGluLysLysAlaAsnLeuMetGluGlnLeuPheGlyAlaSerGlySerSerThrIleSerSerLysSerSerAspProAsnSerValAlaSerSerLysGlyAspIleAspProLeuAsnPheLeuProGlyAsnLysGlySerArgAspGlnGluHisAspGluAspGluGlyPhePheLeuSerGluGlyArgSerPheAsnProAsnArgHisArgLeuLysHisAlaAspAspLysProAlaValLysAlaAlaAspSerValGluAspGluIleGluGluValAlaLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701002"
    }
  ],
  "type": "nucleotide"
}