{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA290481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "R",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NP_001294.2:p.Arg228Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA290480",
          "hgvs": "NM_001303.4:c.682C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140713[alleleid]",
        "alleleId": 140713,
        "preferredName": "NM_001303.4(COX10):c.682C>T (p.Arg228Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137010",
        "RCV": [
          "RCV000124575",
          "RCV000223992",
          "RCV001124728",
          "RCV001124729"
        ],
        "variationId": 137010
      }
    ]
  },
  "type": "amino-acid"
}