{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827645302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 122,
          "referenceAllele": "M",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015899",
      "geneNCBI_id": 79133,
      "geneSymbol": "NDUFAF5",
      "hgvs": [
        "NP_001339332.1:p.Met122Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358016",
          "hgvs": "NM_001352403.2:c.365T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625382"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226977[alleleid]",
        "alleleId": 226977,
        "preferredName": "NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225036",
        "RCV": [
          "RCV000210569",
          "RCV000679869",
          "RCV001507280",
          "RCV001275555",
          "RCV002517436"
        ],
        "variationId": 225036
      }
    ]
  },
  "type": "amino-acid"
}