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        "hgvs": "NP_001177387.1:p.Ile605Phe",
        "hgvsWellDefined": "NP_001177387.1:p.Ile605Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826189451",
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.1813A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Ile605Phe",
        "hgvsWellDefined": "NP_001180465.1:p.Ile605Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645412979",
      "coordinates": [
        {
          "allele": "T",
          "end": 2129,
          "referenceAllele": "A",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.2017A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Ile673Phe",
        "hgvsWellDefined": "NP_982272.2:p.Ile673Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.2017A>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.2017A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Ile673Phe"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Ile673Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}