{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827063608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 131,
          "referenceAllele": "P",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NP_001307905.1:p.Pro131Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320228",
          "hgvs": "NM_001320976.2:c.392C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624520"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211469[alleleid]",
        "alleleId": 211469,
        "preferredName": "NM_078470.6(COX15):c.929C>G (p.Pro310Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214263",
        "RCV": [
          "RCV000195853",
          "RCV000321049",
          "RCV003927838"
        ],
        "variationId": 214263
      }
    ]
  },
  "type": "amino-acid"
}