{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645377613",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2518,
          "referenceAllele": "V",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NP_001264044.1:p.Val2518Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4181262",
          "hgvs": "NM_001277115.2:c.7553T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310724[alleleid]",
        "alleleId": 310724,
        "preferredName": "NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/359652",
        "RCV": [
          "RCV000284216",
          "RCV002504178",
          "RCV002264932"
        ],
        "variationId": 359652
      }
    ]
  },
  "type": "amino-acid"
}