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      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004968.2:c.2569G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860457.1:p.Val857Leu",
        "hgvsWellDefined": "XP_016860457.1:p.Val857Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3016,
          "referenceAllele": "G",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004969.1:c.2224G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860458.1:p.Val742Leu",
        "hgvsWellDefined": "XP_016860458.1:p.Val742Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA338219",
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "referenceAllele": "G",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "NM_024753.5:c.3223G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079029.3:p.Val1075Leu",
        "hgvsWellDefined": "NP_079029.3:p.Val1075Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243344.8:c.3223G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024753.5:c.3223G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243344.7:p.Val1075Leu"
          },
          "RefSeq": {
            "hgvs": "NP_079029.3:p.Val1075Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}