{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499258478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "NP_001596.2:p.Cys152Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA396568600",
          "hgvs": "NM_001605.3:c.455G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1289220[alleleid]",
        "alleleId": 1289220,
        "preferredName": "NM_001605.3(AARS1):c.455G>T (p.Cys152Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1299470",
        "RCV": [
          "RCV001728170",
          "RCV001806251"
        ],
        "variationId": 1299470
      }
    ]
  },
  "type": "amino-acid"
}