{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827063565",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 292,
          "referenceAllele": "L",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NP_001307904.1:p.Leu292Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130810",
          "hgvs": "NM_001320975.2:c.875T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48742[alleleid]",
        "alleleId": 48742,
        "preferredName": "NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40258",
        "RCV": [
          "RCV000033253",
          "RCV000413484",
          "RCV003234935"
        ],
        "variationId": 40258
      }
    ]
  },
  "type": "amino-acid"
}