{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA356268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 4084,
          "referenceAllele": "R",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Arg4084Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350552",
          "hgvs": "NM_001369.3:c.12251G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221596[alleleid]",
        "alleleId": 221596,
        "preferredName": "NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220051",
        "RCV": [
          "RCV000206529",
          "RCV000665808",
          "RCV001327954"
        ],
        "variationId": 220051
      }
    ]
  },
  "type": "amino-acid"
}