{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA206390",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 178,
          "referenceAllele": "I",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_001121369.1:p.Ile178Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206389",
          "hgvs": "NM_001127897.1:c.532A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152181"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208288[alleleid]",
        "alleleId": 208288,
        "preferredName": "NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212064",
        "RCV": [
          "RCV000193122",
          "RCV000861107",
          "RCV001120944",
          "RCV001120942",
          "RCV001120943",
          "RCV001271340",
          "RCV001699228",
          "RCV004020339"
        ],
        "variationId": 212064
      }
    ]
  },
  "type": "amino-acid"
}