{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826658815",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 249,
          "referenceAllele": "R",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269554.1:p.Arg249Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018567",
          "hgvs": "NM_001282625.2:c.746G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77828[alleleid]",
        "alleleId": 77828,
        "preferredName": "NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66931",
        "RCV": [
          "RCV000057453",
          "RCV000201012",
          "RCV000501991",
          "RCV000496185",
          "RCV000548477",
          "RCV000662104",
          "RCV001814042",
          "RCV003230389",
          "RCV004018991"
        ],
        "variationId": 66931
      }
    ]
  },
  "type": "amino-acid"
}