{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829023200",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 812,
          "referenceAllele": "D",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372221.1:p.Asp812Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356911870",
          "hgvs": "NM_001385292.1:c.2434G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735801"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1771533[alleleid]",
        "alleleId": 1771533,
        "preferredName": "NM_000222.3(KIT):c.2446G>A (p.Asp816Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1716236",
        "RCV": [
          "RCV002303314"
        ],
        "variationId": 1716236
      }
    ]
  },
  "type": "amino-acid"
}