{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827780952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "W",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340884.1:p.Trp1800Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206668",
          "hgvs": "NM_001353955.2:c.5398T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618214"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79554[alleleid]",
        "alleleId": 79554,
        "preferredName": "NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68662",
        "RCV": [
          "RCV000059542",
          "RCV000193290",
          "RCV000478850"
        ],
        "variationId": 68662
      }
    ]
  },
  "type": "amino-acid"
}