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        "hgvsWellDefined": "NP_001371661.1:p.[Thr2809_Thr2814delinsAsn;Ile2817_Arg2822del;Leu2824_Thr2825delinsLysAsn;Met2827_Thr2838del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.8425dup"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.8425dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Thr2809AsnfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Thr2809AsnfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8442,
          "referenceAllele": "",
          "start": 8442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.4:c.8263dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Thr2755AsnfsTer8",
        "hgvsWellDefined": "NP_075561.3:p.[Thr2755_Thr2760delinsAsn;Ile2763_Arg2768del;Leu2770_Thr2771delinsLysAsn;Met2773_Thr2784del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728617"
    }
  ],
  "type": "nucleotide"
}