{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA213286",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 329,
          "referenceAllele": "N",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020766",
      "geneNCBI_id": 7846,
      "geneSymbol": "TUBA1A",
      "hgvs": [
        "NP_006000.2:p.Asn329Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA213285",
          "hgvs": "NM_006009.4:c.986A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171589"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168990[alleleid]",
        "alleleId": 168990,
        "preferredName": "NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160167",
        "RCV": [
          "RCV000147821",
          "RCV000767474"
        ],
        "variationId": 160167
      }
    ]
  },
  "type": "amino-acid"
}