{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826018007",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 377,
          "referenceAllele": "R",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007716",
      "geneNCBI_id": 4723,
      "geneSymbol": "NDUFV1",
      "hgvs": [
        "NP_001159574.1:p.Arg377His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6143414",
          "hgvs": "NM_001166102.2:c.1130G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488342[alleleid]",
        "alleleId": 488342,
        "preferredName": "NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496918",
        "RCV": [
          "RCV000592779",
          "RCV001267712",
          "RCV001783094",
          "RCV001731801",
          "RCV004530649"
        ],
        "variationId": 496918
      }
    ]
  },
  "type": "amino-acid"
}