{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA176594",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 166,
          "referenceAllele": "R",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Arg166Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018161",
          "hgvs": "NM_170707.4:c.497G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172483[alleleid]",
        "alleleId": 172483,
        "preferredName": "NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163866",
        "RCV": [
          "RCV000150939",
          "RCV000653861",
          "RCV000732765",
          "RCV000771896",
          "RCV002336298",
          "RCV002505147",
          "RCV003998206"
        ],
        "variationId": 163866
      }
    ]
  },
  "type": "amino-acid"
}