{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828816859",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 321,
          "referenceAllele": "D",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_001366175.1:p.Asp321Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2794682",
          "hgvs": "NM_001379246.1:c.961G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739681"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1060083[alleleid]",
        "alleleId": 1060083,
        "preferredName": "NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070411",
        "RCV": [
          "RCV001382537",
          "RCV001702590",
          "RCV002272466"
        ],
        "variationId": 1070411
      }
    ]
  },
  "type": "amino-acid"
}