{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828894559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_001369324.1:p.Cys471Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261721",
          "hgvs": "NM_001382395.1:c.1412G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346366229",
          "hgvs": "NM_001382395.1:c.1411T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54513[alleleid]",
        "alleleId": 54513,
        "preferredName": "NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45346",
        "RCV": [
          "RCV000038517",
          "RCV001813355",
          "RCV002467541",
          "RCV002467542"
        ],
        "variationId": 45346
      }
    ]
  },
  "type": "amino-acid"
}