{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828551208",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4418,
          "referenceAllele": "M",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NP_001362.2:p.Met4418Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3791814",
          "hgvs": "NM_001371.4:c.13253T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656970"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=456208[alleleid]",
        "alleleId": 456208,
        "preferredName": "NM_001206927.2(DNAH8):c.13904T>C (p.Met4635Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454555",
        "RCV": [
          "RCV000542574",
          "RCV004023703"
        ],
        "variationId": 454555
      }
    ]
  },
  "type": "amino-acid"
}