{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA343181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 283,
          "referenceAllele": "P",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NP_001092744.1:p.Pro283Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343180",
          "hgvs": "NM_001099274.3:c.847C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151193"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47523[alleleid]",
        "alleleId": 47523,
        "preferredName": "NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38920",
        "RCV": [
          "RCV000032171",
          "RCV000428138",
          "RCV003407386"
        ],
        "variationId": 38920
      }
    ]
  },
  "type": "amino-acid"
}