{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828971147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 811,
          "referenceAllele": "D",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372215.1:p.Asp811His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123540",
          "hgvs": "NM_001385286.1:c.2431G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645516949",
          "hgvs": "NM_001385286.1:c.2431_2433delinsCAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735834"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28902[alleleid]",
        "alleleId": 28902,
        "preferredName": "NM_000222.3(KIT):c.2446G>C (p.Asp816His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13863",
        "RCV": [
          "RCV000014877",
          "RCV000379347",
          "RCV000418294",
          "RCV000439677",
          "RCV000505647",
          "RCV000428990"
        ],
        "variationId": 13863
      }
    ]
  },
  "type": "amino-acid"
}