{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580509321",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 330,
          "referenceAllele": "E",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_733822.1:p.Glu330Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342820136",
          "hgvs": "NM_170708.4:c.988G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183081"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2430044[alleleid]",
        "alleleId": 2430044,
        "preferredName": "NM_170707.4(LMNA):c.988G>C (p.Glu330Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2452983",
        "RCV": [
          "RCV003177757"
        ],
        "variationId": 2452983
      }
    ]
  },
  "type": "amino-acid"
}