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        "hgvs": "NP_001361243.1:p.Ile50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.148A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Ile50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075866999",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.148A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Ile50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.148A="
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.148A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Ile50="
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Ile50="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}