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      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1747T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Phe583Val",
        "hgvsWellDefined": "NP_000052.1:p.Phe583Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1747T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1747T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Phe583Val"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Phe583Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692220",
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "T",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1849T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Phe617Val",
        "hgvsWellDefined": "NP_001274273.1:p.Phe617Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742838",
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1219T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Phe407Val",
        "hgvsWellDefined": "NP_001274274.1:p.Phe407Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}