{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828225314",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001354176.1:p.Gly275Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226447",
          "hgvs": "NM_001367247.1:c.823G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674566"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24938[alleleid]",
        "alleleId": 24938,
        "preferredName": "NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9899",
        "RCV": [
          "RCV000010577",
          "RCV000085125",
          "RCV001003203",
          "RCV002512961"
        ],
        "variationId": 9899
      }
    ]
  },
  "type": "amino-acid"
}