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      "@id": "http://reg.genome.network/allele/PA3074617764",
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "NM_002291.3:c.1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002282.2:p.Leu514Pro",
        "hgvsWellDefined": "NP_002282.2:p.Leu514Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222399.11:c.1541T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002291.3:c.1541T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222399.6:p.Leu514Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002282.2:p.Leu514Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}