{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825292984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001008657.1:p.Ala441Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3510837",
          "hgvs": "NM_001008657.3:c.1322C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1602623[alleleid]",
        "alleleId": 1602623,
        "preferredName": "NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1597028",
        "RCV": [
          "RCV002127111",
          "RCV003015339"
        ],
        "variationId": 1597028
      }
    ]
  },
  "type": "amino-acid"
}