{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830327040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 291,
          "referenceAllele": "E",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733821.1:p.Glu291Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342817697",
          "hgvs": "NM_170707.4:c.872A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2534366[alleleid]",
        "alleleId": 2534366,
        "preferredName": "NM_170707.4(LMNA):c.872A>T (p.Glu291Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2502156",
        "RCV": [
          "RCV003228574"
        ],
        "variationId": 2502156
      }
    ]
  },
  "type": "amino-acid"
}