{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "R",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001244303.1:p.Arg532Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014882",
          "hgvs": "NM_001257374.3:c.1594C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160079"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29566[alleleid]",
        "alleleId": 29566,
        "preferredName": "NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14527",
        "RCV": [
          "RCV000015626",
          "RCV000041340",
          "RCV000057374",
          "RCV000144868",
          "RCV000148602",
          "RCV000245284",
          "RCV000755679",
          "RCV000771143",
          "RCV001084244",
          "RCV001174411",
          "RCV002467497",
          "RCV003224100",
          "RCV004528114"
        ],
        "variationId": 14527
      }
    ]
  },
  "type": "amino-acid"
}