{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094781",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 584,
          "referenceAllele": "I",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NP_001367.2:p.Ile584Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128843",
          "hgvs": "NM_001376.5:c.1750A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38987[alleleid]",
        "alleleId": 38987,
        "preferredName": "NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30032",
        "RCV": [
          "RCV000022932",
          "RCV000789730",
          "RCV003447092"
        ],
        "variationId": 30032
      }
    ]
  },
  "type": "amino-acid"
}