{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827139653",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "S",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NP_001308949.1:p.Ser14Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA68073082",
          "hgvs": "NM_001322020.1:c.41C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625097"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=884344[alleleid]",
        "alleleId": 884344,
        "preferredName": "NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/895859",
        "RCV": [
          "RCV001138192",
          "RCV001138193",
          "RCV004032319"
        ],
        "variationId": 895859
      }
    ]
  },
  "type": "amino-acid"
}