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        "hgvs": "XP_016879087.1:p.Ala510Val",
        "hgvsWellDefined": "XP_016879087.1:p.Ala510Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XR_001751971.2:n.1878C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "XR_001751972.2:n.1878C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "NM_003119.4:c.1529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003110.1:p.Ala510Val",
        "hgvsWellDefined": "NP_003110.1:p.Ala510Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695736",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645818.2:c.1529C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003119.4:c.1529C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495795.2:p.Ala510Val"
          },
          "RefSeq": {
            "hgvs": "NP_003110.1:p.Ala510Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}