{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120350",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1193,
          "referenceAllele": "R",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092874.1:p.Arg1193Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017287",
          "hgvs": "NM_001099404.2:c.3578G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24431[alleleid]",
        "alleleId": 24431,
        "preferredName": "NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9392",
        "RCV": [
          "RCV000009991",
          "RCV000009990",
          "RCV000058578",
          "RCV000157488",
          "RCV000154828",
          "RCV000171819",
          "RCV000252422",
          "RCV000755697",
          "RCV001147626",
          "RCV001147627",
          "RCV001147625",
          "RCV001147624",
          "RCV001841238",
          "RCV002476954",
          "RCV003149566"
        ],
        "variationId": 9392
      }
    ]
  },
  "type": "amino-acid"
}