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      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Leu159Pro",
        "hgvsWellDefined": "NP_001025067.1:p.Leu159Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.476T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.476T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Leu159Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Leu159Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720647",
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "referenceAllele": "T",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.479T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Leu160Pro",
        "hgvsWellDefined": "NP_009006.2:p.Leu160Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}