{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828815456",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "E",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001366127.1:p.Glu1049Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315136",
          "hgvs": "NM_001379198.1:c.3146A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203378[alleleid]",
        "alleleId": 203378,
        "preferredName": "NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205754",
        "RCV": [
          "RCV001063200",
          "RCV001705000",
          "RCV002514009"
        ],
        "variationId": 205754
      }
    ]
  },
  "type": "amino-acid"
}