{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828213085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 446,
          "referenceAllele": "E",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011609",
      "geneNCBI_id": 6916,
      "geneSymbol": "TBXAS1",
      "hgvs": [
        "NP_001353466.1:p.Glu446Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4512067",
          "hgvs": "NM_001366537.3:c.1337A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618001"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268076[alleleid]",
        "alleleId": 268076,
        "preferredName": "NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283839",
        "RCV": [
          "RCV000359646",
          "RCV001270607",
          "RCV002521911"
        ],
        "variationId": 283839
      }
    ]
  },
  "type": "amino-acid"
}