{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580539035",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013387",
      "geneNCBI_id": 284086,
      "geneSymbol": "NEK8",
      "hgvs": [
        "NP_835464.1:p.Ala439Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8467400",
          "hgvs": "NM_178170.3:c.1316C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2119062[alleleid]",
        "alleleId": 2119062,
        "preferredName": "NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2068960",
        "RCV": [
          "RCV002954428"
        ],
        "variationId": 2068960
      }
    ]
  },
  "type": "amino-acid"
}