{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580183422",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 471,
          "referenceAllele": "Y",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029182",
      "geneNCBI_id": 22897,
      "geneSymbol": "CEP164",
      "hgvs": [
        "NP_001258862.1:p.Tyr471His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA382741859",
          "hgvs": "NM_001271933.2:c.1411T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161192"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2185971[alleleid]",
        "alleleId": 2185971,
        "preferredName": "NM_014956.5(CEP164):c.1409+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2130675",
        "RCV": [
          "RCV003052213"
        ],
        "variationId": 2130675
      }
    ]
  },
  "type": "amino-acid"
}