{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089139404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 112,
          "referenceAllele": "Q",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NP_570856.2:p.Gln112Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4505155",
          "hgvs": "NM_130841.3:c.334C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4187541[alleleid]",
        "alleleId": 4187541,
        "preferredName": "NM_020632.3(ATP6V0A4):c.334C>G (p.Gln112Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4074273",
        "RCV": [
          "RCV005624657"
        ],
        "variationId": 4074273
      }
    ]
  },
  "type": "amino-acid"
}