{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 214,
          "referenceAllele": "E",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NP_009034.2:p.Glu214Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123738",
          "hgvs": "NM_007103.3:c.640G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29098[alleleid]",
        "alleleId": 29098,
        "preferredName": "NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14059",
        "RCV": [
          "RCV000015103",
          "RCV000497761",
          "RCV003234905"
        ],
        "variationId": 14059
      }
    ]
  },
  "type": "amino-acid"
}