{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499235924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 686,
          "referenceAllele": "M",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001030025.1:p.Met686Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10385310",
          "hgvs": "NM_001034853.2:c.2057T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1266742[alleleid]",
        "alleleId": 1266742,
        "preferredName": "NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1276872",
        "RCV": [
          "RCV001690177",
          "RCV002073226",
          "RCV002496009"
        ],
        "variationId": 1276872
      }
    ]
  },
  "type": "amino-acid"
}