{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645388033",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "I",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Ile1217Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3204207",
          "hgvs": "NM_001369.3:c.3650T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=297294[alleleid]",
        "alleleId": 297294,
        "preferredName": "NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351190",
        "RCV": [
          "RCV000262746",
          "RCV001095085",
          "RCV002466489",
          "RCV003902362"
        ],
        "variationId": 351190
      }
    ]
  },
  "type": "amino-acid"
}