{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826129524",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 257,
          "referenceAllele": "L",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NP_001171455.1:p.Leu257Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16619558",
          "hgvs": "NM_001177984.2:c.769C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156257"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408697[alleleid]",
        "alleleId": 408697,
        "preferredName": "NM_001330260.2(SCN8A):c.769C>G (p.Leu257Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420906",
        "RCV": [
          "RCV000478102"
        ],
        "variationId": 420906
      }
    ]
  },
  "type": "amino-acid"
}