{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501542",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 654,
          "referenceAllele": "E",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_056087.2:p.Glu654Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8057665",
          "hgvs": "NM_015272.2:c.1960G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341803[alleleid]",
        "alleleId": 341803,
        "preferredName": "NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319661",
        "RCV": [
          "RCV000300536",
          "RCV000352999",
          "RCV000402360",
          "RCV000467631",
          "RCV001271328"
        ],
        "variationId": 319661
      }
    ]
  },
  "type": "amino-acid"
}