{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830496587",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2139,
          "referenceAllele": "R",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958784.1:p.Arg2139His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4926003",
          "hgvs": "NM_201382.4:c.6416G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185512"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458311[alleleid]",
        "alleleId": 458311,
        "preferredName": "NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471631",
        "RCV": [
          "RCV000536622",
          "RCV000593069",
          "RCV002530083"
        ],
        "variationId": 471631
      }
    ]
  },
  "type": "amino-acid"
}