{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825139515",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 105,
          "referenceAllele": "E",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_000274.3:p.Glu105Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220605",
          "hgvs": "NM_000283.4:c.313G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98674[alleleid]",
        "alleleId": 98674,
        "preferredName": "NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92767",
        "RCV": [
          "RCV000078554",
          "RCV000778735",
          "RCV001151258",
          "RCV001074335"
        ],
        "variationId": 92767
      }
    ]
  },
  "type": "amino-acid"
}