{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA071659",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 270,
          "referenceAllele": "I",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NP_065099.3:p.Ile270Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA071653",
          "hgvs": "NM_020366.4:c.808A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223641[alleleid]",
        "alleleId": 223641,
        "preferredName": "NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221937",
        "RCV": [
          "RCV000207372",
          "RCV000384797",
          "RCV001002218",
          "RCV001800533",
          "RCV001086986",
          "RCV001800534",
          "RCV003955239"
        ],
        "variationId": 221937
      }
    ]
  },
  "type": "amino-acid"
}