{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175798",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1172,
          "referenceAllele": "Q",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Gln1172Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175797",
          "hgvs": "NM_001369.3:c.3514C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173562[alleleid]",
        "alleleId": 173562,
        "preferredName": "NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163152",
        "RCV": [
          "RCV000150483",
          "RCV000199834",
          "RCV000667191",
          "RCV002292476"
        ],
        "variationId": 163152
      }
    ]
  },
  "type": "amino-acid"
}