{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 178,
          "referenceAllele": "P",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011741",
      "geneNCBI_id": 7019,
      "geneSymbol": "TFAM",
      "hgvs": [
        "NP_003192.1:p.Pro178Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5507988",
          "hgvs": "NM_003201.3:c.533C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169011"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222997[alleleid]",
        "alleleId": 222997,
        "preferredName": "NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221285",
        "RCV": [
          "RCV000256433"
        ],
        "variationId": 221285
      }
    ]
  },
  "type": "amino-acid"
}