{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA284700",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 583,
          "referenceAllele": "S",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Ser583Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020320",
          "hgvs": "NM_170707.4:c.1748C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77761[alleleid]",
        "alleleId": 77761,
        "preferredName": "NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66864",
        "RCV": [
          "RCV000057354",
          "RCV000618100",
          "RCV000653858",
          "RCV001182287",
          "RCV002504960",
          "RCV003333022",
          "RCV003996507"
        ],
        "variationId": 66864
      }
    ]
  },
  "type": "amino-acid"
}