{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580449984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34,
          "referenceAllele": "R",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030325",
      "geneNCBI_id": 64080,
      "geneSymbol": "RBKS",
      "hgvs": [
        "NP_071411.1:p.Arg34Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1585898",
          "hgvs": "NM_022128.2:c.100C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2232122[alleleid]",
        "alleleId": 2232122,
        "preferredName": "NM_022128.3(RBKS):c.100C>T (p.Arg34Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2237937",
        "RCV": [
          "RCV004093156"
        ],
        "variationId": 2237937
      }
    ]
  },
  "type": "amino-acid"
}