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          "start": 3864
        }
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      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:p.Arg465Ter",
        "hgvsWellDefined": "XP_024308237.1:p.Arg466_Trp587delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3498,
          "referenceAllele": "C",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:p.Arg465Ter",
        "hgvsWellDefined": "XP_024308238.1:p.Arg466_Trp587delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3511,
          "referenceAllele": "C",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.1282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:p.Arg428Ter",
        "hgvsWellDefined": "XP_024308239.1:p.Arg429_Trp550delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279373",
      "coordinates": [
        {
          "allele": "T",
          "end": 2992,
          "referenceAllele": "C",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.2668C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg890Ter",
        "hgvsWellDefined": "NP_003602.1:p.Arg891_Trp1012delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2668C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2668C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg890Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg890Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333056",
      "coordinates": [
        {
          "allele": "T",
          "end": 2872,
          "referenceAllele": "C",
          "start": 2871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Arg850Ter",
        "hgvsWellDefined": "NP_001317138.1:p.Arg851_Trp972delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334212",
      "coordinates": [
        {
          "allele": "T",
          "end": 3117,
          "referenceAllele": "C",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg750Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Arg751_Trp872delinsGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}