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        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.2:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Arg924Ter",
        "hgvsWellDefined": "NP_001334631.1:p.Arg924_Leu975delinsAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.2770C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.2770C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Arg924Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Arg924Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830089979",
      "coordinates": [
        {
          "allele": "T",
          "end": 26568,
          "referenceAllele": "C",
          "start": 26567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.26092C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Arg8698Ter",
        "hgvsWellDefined": "NP_149062.2:p.Arg8698_Leu8749delinsAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}