{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "R",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NP_000014.1:p.Arg284Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120431",
          "hgvs": "NM_000023.3:c.850C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146576"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24478[alleleid]",
        "alleleId": 24478,
        "preferredName": "NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9439",
        "RCV": [
          "RCV000010046",
          "RCV000498385",
          "RCV000778108",
          "RCV001194149",
          "RCV001813972"
        ],
        "variationId": 9439
      }
    ]
  },
  "type": "amino-acid"
}