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      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.873A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Ala291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.873A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.873A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Ala291="
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Ala291="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.954A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Ala318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.938A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}