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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371068.11:c.757G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018100.4:c.757G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360107.4:p.Asp253Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_060570.2:p.Asp253Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826063999",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016406",
      "geneNCBI_id": 114327,
      "geneSymbol": "EFHC1",
      "hgvs": [
        "NM_001172420.2:c.700G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165891.1:p.Asp234Tyr",
        "hgvsWellDefined": "NP_001165891.1:p.Asp234Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "referenceAllele": "G",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016406",
      "geneNCBI_id": 114327,
      "geneSymbol": "EFHC1",
      "hgvs": [
        "NR_033327.2:n.2083G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702114"
    }
  ],
  "type": "nucleotide"
}