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        "hgvsWellDefined": "NP_000146.2:p.[Leu74_Pro76delinsValSerTrp;Ala78_Asn82delinsHisProSerGlnArgArg;Val85_Asp90del;Thr92_Phe99del;Ala101_Gln103delinsValArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.220_221del"
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.220_221del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Leu74ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Leu74ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 251,
          "referenceAllele": "CT",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.18_19del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Val8ProfsTer10",
        "hgvsWellDefined": "NP_001245261.1:p.[Val8_Thr15delinsProGlyAlaIleArgAlaAsnGly;Ser17_Pro36del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}