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      "proteinEffect": {
        "hgvs": "XP_011531330.1:n.-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580453393",
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Ala278Val",
        "hgvsWellDefined": "NP_071881.1:p.Ala278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.833C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.833C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Ala278Val"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Ala278Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 2425,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.*16-2426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-2426G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 2425,
          "referenceAllele": "G",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.*16-2426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-2426G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}