{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829020931",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 155,
          "referenceAllele": "P",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372219.1:p.Pro155Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358329",
          "hgvs": "NM_001385290.1:c.464C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735775"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227193[alleleid]",
        "alleleId": 227193,
        "preferredName": "NM_000222.3(KIT):c.464C>T (p.Pro155Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225286",
        "RCV": [
          "RCV000210894",
          "RCV000456468",
          "RCV001022842",
          "RCV001145219",
          "RCV001145220",
          "RCV003480557"
        ],
        "variationId": 225286
      }
    ]
  },
  "type": "amino-acid"
}