{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828893594",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 695,
          "referenceAllele": "Y",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_001369323.1:p.Tyr695His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273696",
          "hgvs": "NM_001382394.1:c.2083T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736059"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49166[alleleid]",
        "alleleId": 49166,
        "preferredName": "NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40696",
        "RCV": [
          "RCV000156979",
          "RCV000159124",
          "RCV000817385",
          "RCV002496502",
          "RCV002467518"
        ],
        "variationId": 40696
      }
    ]
  },
  "type": "amino-acid"
}