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        "hgvsWellDefined": "NP_892006.3:p.Glu4473Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.13417G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.13417G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Glu4473Lys"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Glu4473Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830085795",
      "coordinates": [
        {
          "allele": "A",
          "end": 13680,
          "referenceAllele": "G",
          "start": 13679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.13204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Glu4402Lys",
        "hgvsWellDefined": "NP_149062.2:p.Glu4402Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}