{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830322310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 442,
          "referenceAllele": "R",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NP_775110.1:p.Arg442Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233621",
          "hgvs": "NM_173087.2:c.1324C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183288"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177281[alleleid]",
        "alleleId": 177281,
        "preferredName": "NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166790",
        "RCV": [
          "RCV000152924",
          "RCV000173975",
          "RCV000762950",
          "RCV001332159",
          "RCV001813761",
          "RCV003987377"
        ],
        "variationId": 166790
      }
    ]
  },
  "type": "amino-acid"
}