{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "referenceAllele": "R",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NP_057122.2:p.Arg169Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342201",
          "hgvs": "NM_016038.2:c.505C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174917"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34393[alleleid]",
        "alleleId": 34393,
        "preferredName": "NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21541",
        "RCV": [
          "RCV000020731",
          "RCV003314555",
          "RCV003473118"
        ],
        "variationId": 21541
      }
    ]
  },
  "type": "amino-acid"
}