{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248277",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 676,
          "referenceAllele": "D",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NP_859065.2:p.Asp676Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248276",
          "hgvs": "NM_181714.4:c.2026G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184351"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196354[alleleid]",
        "alleleId": 196354,
        "preferredName": "NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199195",
        "RCV": [
          "RCV000180711",
          "RCV001335589",
          "RCV001272068"
        ],
        "variationId": 199195
      }
    ]
  },
  "type": "amino-acid"
}