{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826673178",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1248,
          "referenceAllele": "Q",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_001269831.1:p.Gln1248Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4851449",
          "hgvs": "NM_001282902.3:c.3743A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162788"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1424504[alleleid]",
        "alleleId": 1424504,
        "preferredName": "NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1367966",
        "RCV": [
          "RCV001865156",
          "RCV003434339"
        ],
        "variationId": 1367966
      }
    ]
  },
  "type": "amino-acid"
}