{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827777912",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "A",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340883.1:p.Ala1771Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285021",
          "hgvs": "NM_001353954.2:c.5311G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617908"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79462[alleleid]",
        "alleleId": 79462,
        "preferredName": "NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68570",
        "RCV": [
          "RCV000059445",
          "RCV000188999",
          "RCV001240035",
          "RCV002468563",
          "RCV001849308",
          "RCV002490666"
        ],
        "variationId": 68570
      }
    ]
  },
  "type": "amino-acid"
}