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        "NM_001127718.4:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Gln257Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "referenceAllele": "C",
          "start": 5826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.5596C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Gln1866Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5596C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5596C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Gln1866Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Gln1866Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}