{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828894646",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 552,
          "referenceAllele": "R",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NP_001369324.1:p.Arg552Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256580",
          "hgvs": "NM_001382395.1:c.1656G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA261730",
          "hgvs": "NM_001382395.1:c.1656G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27911[alleleid]",
        "alleleId": 27911,
        "preferredName": "NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49154[alleleid]",
        "alleleId": 49154,
        "preferredName": "NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12872",
        "RCV": [
          "RCV000159177",
          "RCV000156992",
          "RCV000654947",
          "RCV000763086",
          "RCV000787998",
          "RCV000856746",
          "RCV000013732"
        ],
        "variationId": 12872
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40684",
        "RCV": [
          "RCV000038525",
          "RCV000149832",
          "RCV000515298",
          "RCV000213008",
          "RCV002250500",
          "RCV002399362",
          "RCV000787997",
          "RCV003128391"
        ],
        "variationId": 40684
      }
    ]
  },
  "type": "amino-acid"
}