{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830327051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 293,
          "referenceAllele": "Q",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Gln293Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342817719",
          "hgvs": "NM_170707.4:c.878A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1408940[alleleid]",
        "alleleId": 1408940,
        "preferredName": "NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1364459",
        "RCV": [
          "RCV001937460",
          "RCV002482529"
        ],
        "variationId": 1364459
      }
    ]
  },
  "type": "amino-acid"
}