{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA261978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "R",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Arg541Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017615",
          "hgvs": "NM_170707.4:c.1621C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57210[alleleid]",
        "alleleId": 57210,
        "preferredName": "NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48046",
        "RCV": [
          "RCV000057343",
          "RCV000041325",
          "RCV000211786",
          "RCV000242991",
          "RCV000462793"
        ],
        "variationId": 48046
      }
    ]
  },
  "type": "amino-acid"
}