{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827773861",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1163,
          "referenceAllele": "T",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340881.1:p.Thr1163Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221580",
          "hgvs": "NM_001353952.2:c.3488C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349056646",
          "hgvs": "NM_001353952.2:c.3487A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79508[alleleid]",
        "alleleId": 79508,
        "preferredName": "NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68616",
        "RCV": [
          "RCV000059493",
          "RCV000188915",
          "RCV000296106",
          "RCV000415355",
          "RCV000655982",
          "RCV000986890",
          "RCV000723551",
          "RCV001082811",
          "RCV001129578",
          "RCV002313744",
          "RCV004537267"
        ],
        "variationId": 68616
      }
    ]
  },
  "type": "amino-acid"
}