{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645389141",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 3992,
          "referenceAllele": "D",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Asp3992His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3201780",
          "hgvs": "NM_001369.3:c.11974G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229246[alleleid]",
        "alleleId": 229246,
        "preferredName": "NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228607",
        "RCV": [
          "RCV000214511",
          "RCV000666941",
          "RCV000541309"
        ],
        "variationId": 228607
      }
    ]
  },
  "type": "amino-acid"
}