{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827783015",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1280,
          "referenceAllele": "E",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340886.1:p.Glu1280Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA231476",
          "hgvs": "NM_001353957.2:c.3840A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349053270",
          "hgvs": "NM_001353957.2:c.3840A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79426[alleleid]",
        "alleleId": 79426,
        "preferredName": "NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68534",
        "RCV": [
          "RCV000059407",
          "RCV000118242",
          "RCV000188828",
          "RCV001133131",
          "RCV001080063",
          "RCV001133132",
          "RCV002313742",
          "RCV004542732"
        ],
        "variationId": 68534
      }
    ]
  },
  "type": "amino-acid"
}