{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139677202",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 250,
          "referenceAllele": "L",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Leu250Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400637779",
          "hgvs": "NM_000334.4:c.749T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=928451[alleleid]",
        "alleleId": 928451,
        "preferredName": "NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/943942",
        "RCV": [
          "RCV001214233"
        ],
        "variationId": 943942
      }
    ]
  },
  "type": "amino-acid"
}