{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741921020",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NP_005325.2:p.Thr586Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA337256529",
          "hgvs": "NM_005334.3:c.1756A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3071275[alleleid]",
        "alleleId": 3071275,
        "preferredName": "NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2914464",
        "RCV": [
          "RCV003639256",
          "RCV004374311"
        ],
        "variationId": 2914464
      }
    ]
  },
  "type": "amino-acid"
}