{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828579407",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 680,
          "referenceAllele": "F",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002433",
      "geneNCBI_id": 1436,
      "geneSymbol": "CSF1R",
      "hgvs": [
        "NP_001362250.1:p.Phe680Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345026",
          "hgvs": "NM_001375321.1:c.2039T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710133"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76594[alleleid]",
        "alleleId": 76594,
        "preferredName": "NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65686",
        "RCV": [
          "RCV000055912"
        ],
        "variationId": 65686
      }
    ]
  },
  "type": "amino-acid"
}