{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645388889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2947,
          "referenceAllele": "T",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Thr2947Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3202693",
          "hgvs": "NM_001369.3:c.8840C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229251[alleleid]",
        "alleleId": 229251,
        "preferredName": "NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228609",
        "RCV": [
          "RCV000223383",
          "RCV001833204"
        ],
        "variationId": 228609
      }
    ]
  },
  "type": "amino-acid"
}