{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915983819",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 381,
          "referenceAllele": "E",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_056258.1:p.Glu381Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8618885",
          "hgvs": "NM_015443.4:c.1141G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174558"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378382[alleleid]",
        "alleleId": 378382,
        "preferredName": "NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/380645",
        "RCV": [
          "RCV000436123",
          "RCV001037977"
        ],
        "variationId": 380645
      }
    ]
  },
  "type": "amino-acid"
}