{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA226593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 318,
          "referenceAllele": "Y",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NP_000320.1:p.Tyr318Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226592",
          "hgvs": "NM_000329.3:c.952T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146874"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104790[alleleid]",
        "alleleId": 104790,
        "preferredName": "NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98900",
        "RCV": [
          "RCV000085233",
          "RCV001089895",
          "RCV001854499",
          "RCV003323394"
        ],
        "variationId": 98900
      }
    ]
  },
  "type": "amino-acid"
}