{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499244614",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1946,
          "referenceAllele": "E",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NP_001264044.1:p.Glu1946Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366949663",
          "hgvs": "NM_001277115.2:c.5836G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1007391[alleleid]",
        "alleleId": 1007391,
        "preferredName": "NM_001277115.2(DNAH11):c.5836G>A (p.Glu1946Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1023551",
        "RCV": [
          "RCV001323616"
        ],
        "variationId": 1023551
      }
    ]
  },
  "type": "amino-acid"
}