{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826660769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 584,
          "referenceAllele": "R",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269555.1:p.Arg584His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020327",
          "hgvs": "NM_001282626.2:c.1751G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57213[alleleid]",
        "alleleId": 57213,
        "preferredName": "NM_170707.4(LMNA):c.1751G>A (p.Arg584His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48049",
        "RCV": [
          "RCV000041330",
          "RCV000057355",
          "RCV001065506",
          "RCV001184222",
          "RCV002467559",
          "RCV002504919",
          "RCV003162351"
        ],
        "variationId": 48049
      }
    ]
  },
  "type": "amino-acid"
}