{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827771870",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340880.1:p.Gly1738Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042389",
          "hgvs": "NM_001353951.2:c.5212G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349068398",
          "hgvs": "NM_001353951.2:c.5212G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617632"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359352[alleleid]",
        "alleleId": 359352,
        "preferredName": "NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373157",
        "RCV": [
          "RCV000412769",
          "RCV001861426"
        ],
        "variationId": 373157
      }
    ]
  },
  "type": "amino-acid"
}