{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828173177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1108,
          "referenceAllele": "V",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NP_001352205.1:p.Val1108Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119728",
          "hgvs": "NM_001365276.2:c.3322G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23591[alleleid]",
        "alleleId": 23591,
        "preferredName": "NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8552",
        "RCV": [
          "RCV000480037",
          "RCV002051617",
          "RCV002251892",
          "RCV002276540",
          "RCV002453251",
          "RCV003914821"
        ],
        "variationId": 8552
      }
    ]
  },
  "type": "amino-acid"
}