{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA145124",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1632,
          "referenceAllele": "R",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_932173.1:p.Arg1632His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018735",
          "hgvs": "NM_198056.3:c.4895G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78831[alleleid]",
        "alleleId": 78831,
        "preferredName": "NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67939",
        "RCV": [
          "RCV000058723",
          "RCV000519341",
          "RCV001258072",
          "RCV001530198",
          "RCV002336214",
          "RCV001787861",
          "RCV003450919",
          "RCV003591672",
          "RCV003996546"
        ],
        "variationId": 67939
      }
    ]
  },
  "type": "amino-acid"
}