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      "geneSymbol": "SKIC2",
      "hgvs": [
        "NM_006929.5:c.2659G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008860.4:p.Asp887Asn",
        "hgvsWellDefined": "NP_008860.4:p.Asp887Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375394.7:c.2659G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006929.5:c.2659G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364543.2:p.Asp887Asn"
          },
          "RefSeq": {
            "hgvs": "NP_008860.4:p.Asp887Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}