{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215601",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_000213.1:p.Thr274Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215599",
          "hgvs": "NM_000222.3:c.821C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146771"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50043[alleleid]",
        "alleleId": 50043,
        "preferredName": "NM_000222.3(KIT):c.821C>T (p.Thr274Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41604",
        "RCV": [
          "RCV000034509",
          "RCV000210905",
          "RCV001079392",
          "RCV001027295",
          "RCV001147185",
          "RCV001147186",
          "RCV001818211"
        ],
        "variationId": 41604
      }
    ]
  },
  "type": "amino-acid"
}