{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128864",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1053,
          "referenceAllele": "E",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092874.1:p.Glu1053Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016871",
          "hgvs": "NM_001099404.2:c.3157G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24439[alleleid]",
        "alleleId": 24439,
        "preferredName": "NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9400",
        "RCV": [
          "RCV000010002",
          "RCV000022945",
          "RCV000058552",
          "RCV000469648",
          "RCV000755695",
          "RCV001528558",
          "RCV001841242",
          "RCV002321478",
          "RCV004526592"
        ],
        "variationId": 9400
      }
    ]
  },
  "type": "amino-acid"
}