{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573078112",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 101,
          "referenceAllele": "H",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372221.1:p.His101Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2923199",
          "hgvs": "NM_001385292.1:c.301C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735801"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298678[alleleid]",
        "alleleId": 298678,
        "preferredName": "NM_000222.3(KIT):c.301C>T (p.His101Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348954",
        "RCV": [
          "RCV000308520",
          "RCV000343525",
          "RCV000408357",
          "RCV002436209"
        ],
        "variationId": 348954
      }
    ]
  },
  "type": "amino-acid"
}