{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130803",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NP_079375.3:p.Cys985del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130802",
          "hgvs": "NM_025099.6:c.2954_2956del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178724"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48734[alleleid]",
        "alleleId": 48734,
        "preferredName": "NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40250",
        "RCV": [
          "RCV000033248",
          "RCV000475703",
          "RCV000503047",
          "RCV001797048"
        ],
        "variationId": 40250
      }
    ]
  },
  "type": "amino-acid"
}