{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826442949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "R",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001244303.1:p.Arg104Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018379",
          "hgvs": "NM_001257374.3:c.310C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160079"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196467[alleleid]",
        "alleleId": 196467,
        "preferredName": "NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200938",
        "RCV": [
          "RCV000182360",
          "RCV000241819",
          "RCV000208531",
          "RCV000528116",
          "RCV001778774",
          "RCV000725540"
        ],
        "variationId": 200938
      }
    ]
  },
  "type": "amino-acid"
}