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        "XR_001744756.1:n.5665-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4882,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4882,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "NM_002291.3:c.4746-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002282.2:n.4746-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222399.11:c.4746-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002291.3:c.4746-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222399.6:n.4746-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_002282.2:n.4746-2A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}