{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097369",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 81,
          "referenceAllele": "L",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NP_001683.2:p.Leu81Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121985",
          "hgvs": "NM_001692.4:c.242T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167584"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27267[alleleid]",
        "alleleId": 27267,
        "preferredName": "NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12228",
        "RCV": [
          "RCV000013014",
          "RCV000662318",
          "RCV001386294",
          "RCV001849262"
        ],
        "variationId": 12228
      }
    ]
  },
  "type": "amino-acid"
}