{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580471589",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 66,
          "referenceAllele": "R",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028139",
      "geneNCBI_id": 80763,
      "geneSymbol": "SPX",
      "hgvs": [
        "NP_085049.1:p.Arg66Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6479535",
          "hgvs": "NM_030572.4:c.196C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178852"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2260739[alleleid]",
        "alleleId": 2260739,
        "preferredName": "NM_030572.4(SPX):c.196C>T (p.Arg66Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2270910",
        "RCV": [
          "RCV002809825"
        ],
        "variationId": 2270910
      }
    ]
  },
  "type": "amino-acid"
}