{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102178",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 86,
          "referenceAllele": "R",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Arg86His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341003",
          "hgvs": "NM_000377.3:c.257G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26154[alleleid]",
        "alleleId": 26154,
        "preferredName": "NM_000377.3(WAS):c.257G>A (p.Arg86His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11115",
        "RCV": [
          "RCV000414284",
          "RCV000633305",
          "RCV000011864"
        ],
        "variationId": 11115
      }
    ]
  },
  "type": "amino-acid"
}