{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573184129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 291,
          "referenceAllele": "N",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011609",
      "geneNCBI_id": 6916,
      "geneSymbol": "TBXAS1",
      "hgvs": [
        "NP_001159725.2:p.Asn291Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4511792",
          "hgvs": "NM_001166253.4:c.872A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636244"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1551677[alleleid]",
        "alleleId": 1551677,
        "preferredName": "NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1575649",
        "RCV": [
          "RCV002075310",
          "RCV002290847",
          "RCV003987966"
        ],
        "variationId": 1575649
      }
    ]
  },
  "type": "amino-acid"
}