{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645462379",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 555,
          "referenceAllele": "S",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_998764.1:p.Ser555Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5923318",
          "hgvs": "NM_213599.3:c.1664G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270687[alleleid]",
        "alleleId": 270687,
        "preferredName": "NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286450",
        "RCV": [
          "RCV000498271",
          "RCV000414780",
          "RCV000627020",
          "RCV001068054",
          "RCV001198354",
          "RCV001808736",
          "RCV002288963",
          "RCV004017585"
        ],
        "variationId": 286450
      }
    ]
  },
  "type": "amino-acid"
}