{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA277530",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 115,
          "referenceAllele": "K",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "NP_002487.1:p.Lys115Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277529",
          "hgvs": "NM_002496.4:c.343A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168345"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213613[alleleid]",
        "alleleId": 213613,
        "preferredName": "NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216970",
        "RCV": [
          "RCV000200148",
          "RCV001853220"
        ],
        "variationId": 216970
      }
    ]
  },
  "type": "amino-acid"
}