{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645461510",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_000319.1:p.Thr570Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10385419",
          "hgvs": "NM_000328.3:c.1709C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265745[alleleid]",
        "alleleId": 265745,
        "preferredName": "NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281508",
        "RCV": [
          "RCV000367495",
          "RCV002518820"
        ],
        "variationId": 281508
      }
    ]
  },
  "type": "amino-acid"
}