{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827389948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 787,
          "referenceAllele": "Q",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NP_001333827.1:p.Gln787His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367578835",
          "hgvs": "NM_001346898.1:c.2361G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367578836",
          "hgvs": "NM_001346898.1:c.2361G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1430245[alleleid]",
        "alleleId": 1430245,
        "preferredName": "NM_005228.5(EGFR):c.2361G>T (p.Gln787His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1506320",
        "RCV": [
          "RCV002006641"
        ],
        "variationId": 1506320
      }
    ]
  },
  "type": "amino-acid"
}