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          "allele": "T",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001034974.1:p.Gln460_Gly495delinsAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580456006",
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_077277.1:p.Gln460_Gly495delinsAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.1378C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.1378C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Gln460Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Gln460Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}