{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645378546",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 141,
          "referenceAllele": "E",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028086",
      "geneNCBI_id": 91942,
      "geneSymbol": "NDUFAF2",
      "hgvs": [
        "NP_777549.1:p.Glu141Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3278196",
          "hgvs": "NM_174889.5:c.422A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183582"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=300108[alleleid]",
        "alleleId": 300108,
        "preferredName": "NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/354037",
        "RCV": [
          "RCV000266885",
          "RCV000359308",
          "RCV001861260"
        ],
        "variationId": 354037
      }
    ]
  },
  "type": "amino-acid"
}