{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573066156",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 258,
          "referenceAllele": "H",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_001138763.2:p.His258Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122842",
          "hgvs": "NM_001145291.2:c.772C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739131"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28146[alleleid]",
        "alleleId": 28146,
        "preferredName": "NM_000283.4(PDE6B):c.772C>A (p.His258Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13107",
        "RCV": [
          "RCV000013986"
        ],
        "variationId": 13107
      }
    ]
  },
  "type": "amino-acid"
}