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        "hgvsWellDefined": "NP_064551.3:p.Tyr636_Glu725delinsLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1908C>G"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1908C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Tyr636Ter"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Tyr636Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831579",
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.1557C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Tyr519Ter",
        "hgvsWellDefined": "NP_001280202.1:p.Tyr519_Glu608delinsLeuSerSerValSerSerGlnGluThrGlnGlyGlyProLeuAlaProMetThrGlyThrIleGluLysValPheValLysAlaGlyAspLysValLysAlaGlyAspSerLeuMetValMetIleAlaMetLysMetGluHisThrIleLysSerProLysAspGlyThrValLysLysValPheTyrArgGluGlyAlaGlnAlaAsnArgHisThrProLeuValGluPheGluGluGluGluSerAspLysArgGluSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.1681C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.2455C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}