{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915971208",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 293,
          "referenceAllele": "N",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001087241.1:p.Asn293Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2923332",
          "hgvs": "NM_001093772.2:c.878A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239458[alleleid]",
        "alleleId": 239458,
        "preferredName": "NM_000222.3(KIT):c.878A>G (p.Asn293Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237285",
        "RCV": [
          "RCV000231125",
          "RCV001147187",
          "RCV001147188",
          "RCV001018319",
          "RCV001355985",
          "RCV003967615"
        ],
        "variationId": 237285
      }
    ]
  },
  "type": "amino-acid"
}