{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827778551",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 226,
          "referenceAllele": "T",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340884.1:p.Thr226Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285042",
          "hgvs": "NM_001353955.2:c.677C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618214"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79470[alleleid]",
        "alleleId": 79470,
        "preferredName": "NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68578",
        "RCV": [
          "RCV000059454",
          "RCV000188843",
          "RCV000558296",
          "RCV000763460",
          "RCV001003956",
          "RCV001420531",
          "RCV002470755",
          "RCV003764743"
        ],
        "variationId": 68578
      }
    ]
  },
  "type": "amino-acid"
}