{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139737601",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 288,
          "referenceAllele": "R",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NP_060141.3:p.Arg288Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9758321",
          "hgvs": "NM_017671.5:c.863G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175624"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=886495[alleleid]",
        "alleleId": 886495,
        "preferredName": "NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/898989",
        "RCV": [
          "RCV001143192",
          "RCV002032356"
        ],
        "variationId": 898989
      }
    ]
  },
  "type": "amino-acid"
}