{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826658996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 331,
          "referenceAllele": "R",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269554.1:p.Arg331Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018936",
          "hgvs": "NM_001282625.2:c.992G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57262[alleleid]",
        "alleleId": 57262,
        "preferredName": "NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48098",
        "RCV": [
          "RCV000182367",
          "RCV000593819",
          "RCV000769727",
          "RCV001071970",
          "RCV002381325",
          "RCV003235003",
          "RCV003335073",
          "RCV001265547"
        ],
        "variationId": 48098
      }
    ]
  },
  "type": "amino-acid"
}