{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826673063",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 912,
          "referenceAllele": "R",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_001269831.1:p.Arg912Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117614",
          "hgvs": "NM_001282902.3:c.2735G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162788"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20616[alleleid]",
        "alleleId": 20616,
        "preferredName": "NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5577",
        "RCV": [
          "RCV000005919",
          "RCV000505300",
          "RCV000706380",
          "RCV001781190"
        ],
        "variationId": 5577
      }
    ]
  },
  "type": "amino-acid"
}