{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826327233",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 743,
          "referenceAllele": "E",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_001230271.1:p.Glu743Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8814135",
          "hgvs": "NM_001243342.2:c.2227G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256497[alleleid]",
        "alleleId": 256497,
        "preferredName": "NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260957",
        "RCV": [
          "RCV000252684",
          "RCV000861600",
          "RCV001122216"
        ],
        "variationId": 260957
      }
    ]
  },
  "type": "amino-acid"
}