{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580376084",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 280,
          "referenceAllele": "K",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NP_036593.2:p.Lys280Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389225619",
          "hgvs": "NM_012461.2:c.838A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173147"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1688371[alleleid]",
        "alleleId": 1688371,
        "preferredName": "NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1695962",
        "RCV": [
          "RCV002509813",
          "RCV003645906"
        ],
        "variationId": 1695962
      }
    ]
  },
  "type": "amino-acid"
}