{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829414017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011212",
      "geneNCBI_id": 6674,
      "geneSymbol": "SPAG1",
      "hgvs": [
        "NP_003105.2:p.Thr409Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4827471",
          "hgvs": "NM_003114.5:c.1226C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371808984",
          "hgvs": "NM_003114.5:c.1225A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168931"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396243[alleleid]",
        "alleleId": 396243,
        "preferredName": "NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410994",
        "RCV": [
          "RCV000463219",
          "RCV002365656",
          "RCV003932713"
        ],
        "variationId": 410994
      }
    ]
  },
  "type": "amino-acid"
}