{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830022829",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 206,
          "referenceAllele": "T",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015899",
      "geneNCBI_id": 79133,
      "geneSymbol": "NDUFAF5",
      "hgvs": [
        "NP_077025.2:p.Thr206Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9767826",
          "hgvs": "NM_024120.5:c.617C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178226"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980011[alleleid]",
        "alleleId": 980011,
        "preferredName": "NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/991370",
        "RCV": [
          "RCV001279573",
          "RCV002480914",
          "RCV002537856"
        ],
        "variationId": 991370
      }
    ]
  },
  "type": "amino-acid"
}