{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741941792",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 131,
          "referenceAllele": "R",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017575",
      "geneNCBI_id": 23013,
      "geneSymbol": "SPEN",
      "hgvs": [
        "NP_055816.2:p.Arg131Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338597091",
          "hgvs": "NM_015001.3:c.392G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174195"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2839843[alleleid]",
        "alleleId": 2839843,
        "preferredName": "NM_015001.3(SPEN):c.392G>A (p.Arg131Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2672323",
        "RCV": [
          "RCV003456630"
        ],
        "variationId": 2672323
      }
    ]
  },
  "type": "amino-acid"
}