{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA232548",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 431,
          "referenceAllele": "L",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NP_004997.4:p.Leu431Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA232547",
          "hgvs": "NM_005006.6:c.1291C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142182[alleleid]",
        "alleleId": 142182,
        "preferredName": "NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138479",
        "RCV": [
          "RCV000195297",
          "RCV000513877",
          "RCV000605317",
          "RCV001143218",
          "RCV001282631",
          "RCV001143217",
          "RCV003925255"
        ],
        "variationId": 138479
      }
    ]
  },
  "type": "amino-acid"
}