{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825150049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1035,
          "referenceAllele": "P",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_000347.2:p.Pro1035Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3511478",
          "hgvs": "NM_000356.4:c.3104C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146901"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1239373[alleleid]",
        "alleleId": 1239373,
        "preferredName": "NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1250286",
        "RCV": [
          "RCV002539585",
          "RCV001652536"
        ],
        "variationId": 1250286
      }
    ]
  },
  "type": "amino-acid"
}