{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573280245",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 230,
          "referenceAllele": "R",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "NP_065805.2:p.Arg230Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2553686",
          "hgvs": "NM_020754.4:c.688C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1453871[alleleid]",
        "alleleId": 1453871,
        "preferredName": "NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1402061",
        "RCV": [
          "RCV001913332",
          "RCV003136285"
        ],
        "variationId": 1402061
      }
    ]
  },
  "type": "amino-acid"
}