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        "hgvsWellDefined": "XP_024308238.1:p.Arg485_Trp587delinsGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3568,
          "referenceAllele": "C",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.1339C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:p.Arg447Ter",
        "hgvsWellDefined": "XP_024308239.1:p.Arg448_Trp550delinsGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427665",
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.2725C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg909Ter",
        "hgvsWellDefined": "NP_003602.1:p.Arg910_Trp1012delinsGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2725C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2725C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg909Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg909Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333089",
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.2605C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Arg869Ter",
        "hgvsWellDefined": "NP_001317138.1:p.Arg870_Trp972delinsGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334247",
      "coordinates": [
        {
          "allele": "T",
          "end": 3174,
          "referenceAllele": "C",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.2305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg769Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Arg770_Trp872delinsGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}