{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580257432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 280,
          "referenceAllele": "R",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001635",
      "geneNCBI_id": 910,
      "geneSymbol": "CD1B",
      "hgvs": [
        "NP_001755.1:p.Arg280Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1179137",
          "hgvs": "NM_001764.3:c.839G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2207990[alleleid]",
        "alleleId": 2207990,
        "preferredName": "NM_001764.3(CD1B):c.839G>A (p.Arg280Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224570",
        "RCV": [
          "RCV004086693"
        ],
        "variationId": 2224570
      }
    ]
  },
  "type": "amino-acid"
}