{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828578939",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 782,
          "referenceAllele": "R",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NP_001362249.1:p.Arg782His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343014",
          "hgvs": "NM_001375320.1:c.2345G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709871"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46939[alleleid]",
        "alleleId": 46939,
        "preferredName": "NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38378",
        "RCV": [
          "RCV000031932",
          "RCV001561353",
          "RCV002482936"
        ],
        "variationId": 38378
      }
    ]
  },
  "type": "amino-acid"
}