{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827752753",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1231,
          "referenceAllele": "S",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340877.1:p.Ser1231Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285135",
          "hgvs": "NM_001353948.2:c.3693T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349055681",
          "hgvs": "NM_001353948.2:c.3693T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349055688",
          "hgvs": "NM_001353948.2:c.3691A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79511[alleleid]",
        "alleleId": 79511,
        "preferredName": "NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68619",
        "RCV": [
          "RCV000059496"
        ],
        "variationId": 68619
      }
    ]
  },
  "type": "amino-acid"
}