{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829425898",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 72,
          "referenceAllele": "S",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_003233.4:p.Ser72Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16611209",
          "hgvs": "NM_003242.6:c.215G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=393447[alleleid]",
        "alleleId": 393447,
        "preferredName": "NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408442",
        "RCV": [
          "RCV000472675",
          "RCV002489048",
          "RCV004000770",
          "RCV003488611",
          "RCV004022692"
        ],
        "variationId": 408442
      }
    ]
  },
  "type": "amino-acid"
}