{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239326",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 386,
          "referenceAllele": "K",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_056087.2:p.Lys386Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239324",
          "hgvs": "NM_015272.2:c.1156A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190880[alleleid]",
        "alleleId": 190880,
        "preferredName": "NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193717",
        "RCV": [
          "RCV000339807",
          "RCV000307599",
          "RCV000401583",
          "RCV000697464",
          "RCV000724780",
          "RCV000765297",
          "RCV001271337",
          "RCV002516602",
          "RCV004539604"
        ],
        "variationId": 193717
      }
    ]
  },
  "type": "amino-acid"
}