{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA348359",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 481,
          "referenceAllele": "E",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028949",
      "geneNCBI_id": 9657,
      "geneSymbol": "IQCB1",
      "hgvs": [
        "NP_001018864.2:p.Glu481Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348358",
          "hgvs": "NM_001023570.4:c.1441G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149205"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221358[alleleid]",
        "alleleId": 221358,
        "preferredName": "NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220867",
        "RCV": [
          "RCV000519668",
          "RCV000787845",
          "RCV001147493",
          "RCV001082244",
          "RCV003917846"
        ],
        "variationId": 220867
      }
    ]
  },
  "type": "amino-acid"
}