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        "hgvsWellDefined": "ENSP00000399154.2:p.Gln145_Thr335delinsGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826268739",
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_001204255.1:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191184.1:p.Gln145Ter",
        "hgvsWellDefined": "NP_001191184.1:p.Gln145_Thr335delinsGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118741",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_005506.3:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005497.1:p.Gln288Ter",
        "hgvsWellDefined": "NP_005497.1:p.Gln288_Thr478delinsGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118741",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_005506.4:c.862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005497.1:p.Gln288Ter",
        "hgvsWellDefined": "NP_005497.1:p.Gln288_Thr478delinsGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264896.8:c.862C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005506.4:c.862C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264896.2:p.Gln288Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005497.1:p.Gln288Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826268739",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_001204255.2:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191184.1:p.Gln145Ter",
        "hgvsWellDefined": "NP_001191184.1:p.Gln145_Thr335delinsGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679803"
    }
  ],
  "type": "nucleotide"
}