{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645436960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "referenceAllele": "A",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011212",
      "geneNCBI_id": 6674,
      "geneSymbol": "SPAG1",
      "hgvs": [
        "NP_757367.1:p.Ala69Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4827199",
          "hgvs": "NM_172218.3:c.205G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240211[alleleid]",
        "alleleId": 240211,
        "preferredName": "NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242014",
        "RCV": [
          "RCV000231674",
          "RCV003907898",
          "RCV002418030"
        ],
        "variationId": 242014
      }
    ]
  },
  "type": "amino-acid"
}