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        "NM_201596.3:c.1312G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:p.Asp438His",
        "hgvsWellDefined": "NP_963890.2:p.Asp438His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.1312G>C"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.1312G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:p.Asp438His"
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:p.Asp438His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830469312",
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.3:c.1240G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:p.Asp414His",
        "hgvsWellDefined": "NP_963891.1:p.Asp414His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701584"
    }
  ],
  "type": "nucleotide"
}