{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 225,
          "referenceAllele": "P",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NP_001294.2:p.Pro225Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118861",
          "hgvs": "NM_001303.4:c.674C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22563[alleleid]",
        "alleleId": 22563,
        "preferredName": "NM_001303.4(COX10):c.674C>T (p.Pro225Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7524",
        "RCV": [
          "RCV000007959"
        ],
        "variationId": 7524
      }
    ]
  },
  "type": "amino-acid"
}