{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 80,
          "referenceAllele": "E",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269553.1:p.Glu80Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018140",
          "hgvs": "NM_001282624.2:c.238G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162571"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29543[alleleid]",
        "alleleId": 29543,
        "preferredName": "NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14504",
        "RCV": [
          "RCV000015598",
          "RCV000057409",
          "RCV000211788",
          "RCV000687241",
          "RCV003318333",
          "RCV004018635",
          "RCV001170451"
        ],
        "variationId": 14504
      }
    ]
  },
  "type": "amino-acid"
}