{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828893193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 259,
          "referenceAllele": "T",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_001369323.1:p.Thr259Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256578",
          "hgvs": "NM_001382394.1:c.776C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736059"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27908[alleleid]",
        "alleleId": 27908,
        "preferredName": "NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12869",
        "RCV": [
          "RCV000013729",
          "RCV000038570",
          "RCV000149833",
          "RCV000213007",
          "RCV000515403",
          "RCV003450637"
        ],
        "variationId": 12869
      }
    ]
  },
  "type": "amino-acid"
}