{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826660752",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 573,
          "referenceAllele": "S",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269555.1:p.Ser573Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020299",
          "hgvs": "NM_001282626.2:c.1718C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29556[alleleid]",
        "alleleId": 29556,
        "preferredName": "NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14517",
        "RCV": [
          "RCV000015612",
          "RCV000015613",
          "RCV000015614",
          "RCV000057351",
          "RCV000041329",
          "RCV000617932",
          "RCV000653881",
          "RCV001188887",
          "RCV002221478",
          "RCV002509159",
          "RCV001248900"
        ],
        "variationId": 14517
      }
    ]
  },
  "type": "amino-acid"
}