{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645388709",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2713,
          "referenceAllele": "R",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Arg2713Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3202891",
          "hgvs": "NM_001369.3:c.8137C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395367[alleleid]",
        "alleleId": 395367,
        "preferredName": "NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/414348",
        "RCV": [
          "RCV000475199",
          "RCV001157487",
          "RCV001662438"
        ],
        "variationId": 414348
      }
    ]
  },
  "type": "amino-acid"
}