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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.1990C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:p.Arg664Ter",
        "hgvsWellDefined": "XP_011529648.1:p.Arg664_Arg832delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573199246",
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.1990C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Arg664Ter",
        "hgvsWellDefined": "NP_001305713.1:p.Arg664_Asp902delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Arg506Ter",
        "hgvsWellDefined": "XP_005262479.1:p.Arg506_Asp744delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Arg615Ter",
        "hgvsWellDefined": "XP_011529646.1:p.Arg615_Asp853delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "referenceAllele": "C",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Arg615Ter",
        "hgvsWellDefined": "XP_011529647.1:p.Arg615_Asp853delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.Arg663Ter",
        "hgvsWellDefined": "XP_016885043.1:p.Arg663_Arg831delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137750",
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Arg663Ter",
        "hgvsWellDefined": "NP_000267.2:p.Arg663_Asp901delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.1987C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.1987C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Arg663Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Arg663Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573199246",
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.1990C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Arg664Ter",
        "hgvsWellDefined": "NP_001305713.1:p.Arg664_Asp902delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332084",
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Arg663Ter",
        "hgvsWellDefined": "NP_001578.2:p.Arg663_Asp893delinsGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}