{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104993",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 170,
          "referenceAllele": "K",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_005624.2:p.Lys170Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235342",
          "hgvs": "NM_005633.4:c.508A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171254"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49121[alleleid]",
        "alleleId": 49121,
        "preferredName": "NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40651",
        "RCV": [
          "RCV000038560",
          "RCV000157689",
          "RCV000476014",
          "RCV001002150",
          "RCV001526618",
          "RCV001729357",
          "RCV002345263",
          "RCV003914900"
        ],
        "variationId": 40651
      }
    ]
  },
  "type": "amino-acid"
}