{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826673498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 912,
          "referenceAllele": "L",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_001269832.1:p.Leu912Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA372064316",
          "hgvs": "NM_001282903.3:c.2735T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162789"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=432072[alleleid]",
        "alleleId": 432072,
        "preferredName": "NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438462",
        "RCV": [
          "RCV000505296",
          "RCV002060162"
        ],
        "variationId": 438462
      }
    ]
  },
  "type": "amino-acid"
}