{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645387756",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 321,
          "referenceAllele": "S",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Ser321Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3205026",
          "hgvs": "NM_001369.3:c.962C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395055[alleleid]",
        "alleleId": 395055,
        "preferredName": "NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407231",
        "RCV": [
          "RCV000463187",
          "RCV000625551",
          "RCV003884546"
        ],
        "variationId": 407231
      }
    ]
  },
  "type": "amino-acid"
}