{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828962913",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 423,
          "referenceAllele": "V",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372213.1:p.Val423Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356905446",
          "hgvs": "NM_001385284.1:c.1267G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562207[alleleid]",
        "alleleId": 562207,
        "preferredName": "NM_000222.3(KIT):c.1264G>A (p.Val422Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576821",
        "RCV": [
          "RCV000699413",
          "RCV001145326",
          "RCV001010625",
          "RCV001145327"
        ],
        "variationId": 576821
      }
    ]
  },
  "type": "amino-acid"
}