{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580429614",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 56,
          "referenceAllele": "A",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NP_068374.1:p.Ala56Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390052469",
          "hgvs": "NM_021728.4:c.167C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177542"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1970303[alleleid]",
        "alleleId": 1970303,
        "preferredName": "NM_021728.4(OTX2):c.167C>A (p.Ala56Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1913972",
        "RCV": [
          "RCV002590108"
        ],
        "variationId": 1913972
      }
    ]
  },
  "type": "amino-acid"
}