{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123997",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 370,
          "referenceAllele": "R",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001244303.1:p.Arg370Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014814",
          "hgvs": "NM_001257374.3:c.1109G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160079"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29525[alleleid]",
        "alleleId": 29525,
        "preferredName": "NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14486",
        "RCV": [
          "RCV000015575",
          "RCV000041318",
          "RCV000057299",
          "RCV000190399",
          "RCV000459624",
          "RCV000754814",
          "RCV000763258",
          "RCV001179839",
          "RCV001822996",
          "RCV002390111",
          "RCV004532361"
        ],
        "variationId": 14486
      }
    ]
  },
  "type": "amino-acid"
}