{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828894634",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 548,
          "referenceAllele": "S",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_001369324.1:p.Ser548Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234977",
          "hgvs": "NM_001382395.1:c.1642A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA297272",
          "hgvs": "NM_001382395.1:c.1644T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346365700",
          "hgvs": "NM_001382395.1:c.1644T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49148[alleleid]",
        "alleleId": 49148,
        "preferredName": "NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49149[alleleid]",
        "alleleId": 49149,
        "preferredName": "NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40678",
        "RCV": [
          "RCV000038515",
          "RCV000153986",
          "RCV000623399",
          "RCV000654915",
          "RCV000763087",
          "RCV001813287",
          "RCV002054544",
          "RCV003450659"
        ],
        "variationId": 40678
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40679",
        "RCV": [
          "RCV000159171",
          "RCV001261087",
          "RCV001381689",
          "RCV002467514"
        ],
        "variationId": 40679
      }
    ]
  },
  "type": "amino-acid"
}