{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3086273030",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 443,
          "referenceAllele": "M",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NP_079152.3:p.Met443Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9450034",
          "hgvs": "NM_024876.4:c.1329G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405958037",
          "hgvs": "NM_024876.4:c.1329G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405958038",
          "hgvs": "NM_024876.4:c.1329G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4200433[alleleid]",
        "alleleId": 4200433,
        "preferredName": "NM_024876.4(COQ8B):c.1329G>T (p.Met443Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4087810",
        "RCV": [
          "RCV005648447"
        ],
        "variationId": 4087810
      }
    ]
  },
  "type": "amino-acid"
}