{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830305256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NP_689629.2:p.Cys61Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371743065",
          "hgvs": "NM_152416.4:c.182G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182380"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3338224[alleleid]",
        "alleleId": 3338224,
        "preferredName": "NM_152416.4(NDUFAF6):c.182G>A (p.Cys61Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3187580",
        "RCV": [
          "RCV004477423"
        ],
        "variationId": 3187580
      }
    ]
  },
  "type": "amino-acid"
}