{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828966234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 576,
          "referenceAllele": "L",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372214.1:p.Leu576Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602401",
          "hgvs": "NM_001385285.1:c.1727T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891841855",
          "hgvs": "NM_001385285.1:c.1727_1731delinsCTCCC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362798[alleleid]",
        "alleleId": 362798,
        "preferredName": "NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375919",
        "RCV": [
          "RCV000426967",
          "RCV000426330",
          "RCV000433543",
          "RCV000443552",
          "RCV002402118"
        ],
        "variationId": 375919
      }
    ]
  },
  "type": "amino-acid"
}