{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037915",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "I",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NP_001341445.1:p.Ile72Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325074",
          "hgvs": "NM_001354516.2:c.215T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3057218917",
          "hgvs": "NM_001354516.2:c.213_215delinsCAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211343[alleleid]",
        "alleleId": 211343,
        "preferredName": "NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214212",
        "RCV": [
          "RCV000200495",
          "RCV000412555",
          "RCV001004883",
          "RCV002517199"
        ],
        "variationId": 214212
      }
    ]
  },
  "type": "amino-acid"
}