{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096791",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 151,
          "referenceAllele": "T",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005246",
      "geneNCBI_id": 3315,
      "geneSymbol": "HSPB1",
      "hgvs": [
        "NP_001531.1:p.Thr151Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118824",
          "hgvs": "NM_001540.5:c.452C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167463"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22519[alleleid]",
        "alleleId": 22519,
        "preferredName": "NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7480",
        "RCV": [
          "RCV000007908",
          "RCV000809687",
          "RCV001174177",
          "RCV001815164"
        ],
        "variationId": 7480
      }
    ]
  },
  "type": "amino-acid"
}