{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829600064",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1776,
          "referenceAllele": "Q",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NP_005325.2:p.Gln1776His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10556812",
          "hgvs": "NM_005334.3:c.5328G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA415105163",
          "hgvs": "NM_005334.3:c.5328G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3121121[alleleid]",
        "alleleId": 3121121,
        "preferredName": "NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2965963",
        "RCV": [
          "RCV003826113",
          "RCV004366789"
        ],
        "variationId": 2965963
      }
    ]
  },
  "type": "amino-acid"
}