{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830478823",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "referenceAllele": "A",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958780.1:p.Ala2267Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4925834",
          "hgvs": "NM_201378.4:c.6799G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185508"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458305[alleleid]",
        "alleleId": 458305,
        "preferredName": "NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471637",
        "RCV": [
          "RCV000529959",
          "RCV000609012",
          "RCV000727816",
          "RCV004024181"
        ],
        "variationId": 471637
      }
    ]
  },
  "type": "amino-acid"
}