{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "R",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NP_001367.2:p.Arg598Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA174988",
          "hgvs": "NM_001376.5:c.1792C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143271[alleleid]",
        "alleleId": 143271,
        "preferredName": "NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139652",
        "RCV": [
          "RCV000149555",
          "RCV000144249",
          "RCV000255067",
          "RCV000624400",
          "RCV000755714",
          "RCV000762919"
        ],
        "variationId": 139652
      }
    ]
  },
  "type": "amino-acid"
}