{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA173412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 16,
          "referenceAllele": "E",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NP_056374.2:p.Glu16Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA173411",
          "hgvs": "NM_015559.3:c.46G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174645"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169418[alleleid]",
        "alleleId": 169418,
        "preferredName": "NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159883",
        "RCV": [
          "RCV000147470",
          "RCV002055930",
          "RCV003258669"
        ],
        "variationId": 159883
      }
    ]
  },
  "type": "amino-acid"
}