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      "hgvs": [
        "NM_001386393.1:c.67A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373322.1:p.Met23Val",
        "hgvsWellDefined": "NP_001373322.1:p.Met23Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.67A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.67A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Met23Val"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Met23Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331561",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.397A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Met133Val",
        "hgvsWellDefined": "NP_705902.2:p.Met133Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    }
  ],
  "type": "nucleotide"
}