{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580381075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1684,
          "referenceAllele": "T",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014864",
      "geneNCBI_id": 50509,
      "geneSymbol": "COL5A3",
      "hgvs": [
        "NP_056534.2:p.Thr1684Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9181610",
          "hgvs": "NM_015719.4:c.5051C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174754"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2193784[alleleid]",
        "alleleId": 2193784,
        "preferredName": "NM_015719.4(COL5A3):c.5051C>A (p.Thr1684Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2209036",
        "RCV": [
          "RCV004074542"
        ],
        "variationId": 2209036
      }
    ]
  },
  "type": "amino-acid"
}