{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "R",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Arg399Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016847",
          "hgvs": "NM_170707.4:c.1195C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29558[alleleid]",
        "alleleId": 29558,
        "preferredName": "NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14519",
        "RCV": [
          "RCV001174241",
          "RCV000653937",
          "RCV001257937",
          "RCV001188431",
          "RCV002336085",
          "RCV000015616",
          "RCV000057255"
        ],
        "variationId": 14519
      }
    ]
  },
  "type": "amino-acid"
}