{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645376984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "S",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NP_001264044.1:p.Ser684Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4179203",
          "hgvs": "NM_001277115.2:c.2050A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=305690[alleleid]",
        "alleleId": 305690,
        "preferredName": "NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/359609",
        "RCV": [
          "RCV000348500"
        ],
        "variationId": 359609
      }
    ]
  },
  "type": "amino-acid"
}