{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Ala340Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8709973",
          "hgvs": "NM_000334.4:c.1018G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422187[alleleid]",
        "alleleId": 422187,
        "preferredName": "NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429845",
        "RCV": [
          "RCV000492837",
          "RCV000764145",
          "RCV001122194",
          "RCV001122196",
          "RCV001122193",
          "RCV001252850",
          "RCV001122195",
          "RCV001122197"
        ],
        "variationId": 429845
      }
    ]
  },
  "type": "amino-acid"
}