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      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.2155C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Gln719Ter",
        "hgvsWellDefined": "XP_011529647.1:p.Gln719_Asp853delinsIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "C",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.Gln767Ter",
        "hgvsWellDefined": "XP_016885043.1:p.Gln767_Arg831delinsIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275101",
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Gln767Ter",
        "hgvsWellDefined": "NP_000267.2:p.Gln767_Asp901delinsIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.2299C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.2299C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Gln767Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Gln767Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022634",
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "referenceAllele": "C",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Gln768Ter",
        "hgvsWellDefined": "NP_001305713.1:p.Gln768_Asp902delinsIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "C",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.2275C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Gln759Ter",
        "hgvsWellDefined": "NP_001578.2:p.Gln759_Asp893delinsIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}