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        "hgvsWellDefined": "NP_001078897.1:p.Gln381_Ala423delinsLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065494",
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.1141C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Gln381Ter",
        "hgvsWellDefined": "NP_001349711.1:p.Gln381_Ala423delinsLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}