{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830086793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5591,
          "referenceAllele": "R",
          "start": 5590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_149062.2:p.Arg5591Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4055383",
          "hgvs": "NM_033071.5:c.16771C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734835"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268711[alleleid]",
        "alleleId": 268711,
        "preferredName": "NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284474",
        "RCV": [
          "RCV000321614",
          "RCV000266512",
          "RCV001252119",
          "RCV001331537",
          "RCV001362101",
          "RCV000710244",
          "RCV002518932",
          "RCV004535321"
        ],
        "variationId": 284474
      }
    ]
  },
  "type": "amino-acid"
}