{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830490377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 682,
          "referenceAllele": "I",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958783.1:p.Ile682Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4927642",
          "hgvs": "NM_201381.3:c.2044A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441211[alleleid]",
        "alleleId": 441211,
        "preferredName": "NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448055",
        "RCV": [
          "RCV000516810",
          "RCV000871807",
          "RCV002255424",
          "RCV002527511"
        ],
        "variationId": 448055
      }
    ]
  },
  "type": "amino-acid"
}