{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139747473",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 53,
          "referenceAllele": "A",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007714",
      "geneNCBI_id": 374291,
      "geneSymbol": "NDUFS7",
      "hgvs": [
        "NP_077718.3:p.Ala53Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9043133",
          "hgvs": "NM_024407.5:c.158C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178278"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=880002[alleleid]",
        "alleleId": 880002,
        "preferredName": "NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/889310",
        "RCV": [
          "RCV001123146",
          "RCV001123145",
          "RCV002556658",
          "RCV003339513"
        ],
        "variationId": 889310
      }
    ]
  },
  "type": "amino-acid"
}