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        "XR_002957979.1:n.1951C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665405",
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "NM_152468.5:c.1982C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689681.2:p.Pro661Leu",
        "hgvsWellDefined": "NP_689681.2:p.Pro661Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318430.10:c.1982C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152468.5:c.1982C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325561.4:p.Pro661Leu"
          },
          "RefSeq": {
            "hgvs": "NP_689681.2:p.Pro661Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}