{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828809049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "S",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NP_001366070.1:p.Ser381Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402317890",
          "hgvs": "NM_001379141.1:c.1141T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1021754[alleleid]",
        "alleleId": 1021754,
        "preferredName": "NM_015559.3(SETBP1):c.1141T>G (p.Ser381Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1033368",
        "RCV": [
          "RCV001335763",
          "RCV003770859"
        ],
        "variationId": 1033368
      }
    ]
  },
  "type": "amino-acid"
}