{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499283810",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 582,
          "referenceAllele": "E",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020185",
      "geneNCBI_id": 54916,
      "geneSymbol": "TMEM260",
      "hgvs": [
        "NP_060269.3:p.Glu582Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389835694",
          "hgvs": "NM_017799.4:c.1744G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192599[alleleid]",
        "alleleId": 1192599,
        "preferredName": "NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1202597",
        "RCV": [
          "RCV001568327"
        ],
        "variationId": 1202597
      }
    ]
  },
  "type": "amino-acid"
}