{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828502750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 107,
          "referenceAllele": "R",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014630",
      "geneNCBI_id": 78987,
      "geneSymbol": "CRELD1",
      "hgvs": [
        "NP_001361249.1:p.Arg107His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281535",
          "hgvs": "NM_001374320.1:c.320G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708414"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18468[alleleid]",
        "alleleId": 18468,
        "preferredName": "NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3429",
        "RCV": [
          "RCV000003598",
          "RCV000372397",
          "RCV001086171"
        ],
        "variationId": 3429
      }
    ]
  },
  "type": "amino-acid"
}