{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825139445",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 45,
          "referenceAllele": "D",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_000274.3:p.Asp45Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2793852",
          "hgvs": "NM_000283.4:c.133G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295264[alleleid]",
        "alleleId": 295264,
        "preferredName": "NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349288",
        "RCV": [
          "RCV000298325",
          "RCV000341531",
          "RCV001320505",
          "RCV003888829"
        ],
        "variationId": 349288
      }
    ]
  },
  "type": "amino-acid"
}