{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645421905",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 4608,
          "referenceAllele": "T",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NP_001193856.1:p.Thr4608Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3791778",
          "hgvs": "NM_001206927.2:c.13823C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158359"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395182[alleleid]",
        "alleleId": 395182,
        "preferredName": "NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/414429",
        "RCV": [
          "RCV000457038",
          "RCV002496818"
        ],
        "variationId": 414429
      }
    ]
  },
  "type": "amino-acid"
}