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      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Tyr153Cys",
        "hgvsWellDefined": "NP_004306.3:p.Tyr153Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}