{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913198411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "R",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Arg443Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153604",
          "hgvs": "NM_002180.3:c.1327C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=608961[alleleid]",
        "alleleId": 608961,
        "preferredName": "NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/617575",
        "RCV": [
          "RCV000754729",
          "RCV001173330",
          "RCV002533772"
        ],
        "variationId": 617575
      }
    ]
  },
  "type": "amino-acid"
}