{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827787947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 541,
          "referenceAllele": "R",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340889.1:p.Arg541Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234872",
          "hgvs": "NM_001353960.2:c.1622G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79480[alleleid]",
        "alleleId": 79480,
        "preferredName": "NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68588",
        "RCV": [
          "RCV000059464",
          "RCV000118239",
          "RCV000475058",
          "RCV000578859",
          "RCV000655983",
          "RCV001252611",
          "RCV000789040",
          "RCV001705717",
          "RCV002316218",
          "RCV004537265"
        ],
        "variationId": 68588
      }
    ]
  },
  "type": "amino-acid"
}