{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA052532",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 39,
          "referenceAllele": "F",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NP_077282.3:p.Phe39Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
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          "hgvs": "NM_024306.5:c.117C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396768381",
          "hgvs": "NM_024306.5:c.117C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396768386",
          "hgvs": "NM_024306.5:c.115T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198637[alleleid]",
        "alleleId": 198637,
        "preferredName": "NC_000016.9:g.74808537G>T"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1926347[alleleid]",
        "alleleId": 1926347,
        "preferredName": "NM_024306.5(FA2H):c.117C>G (p.Phe39Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242579",
        "RCV": [
          "RCV001854843"
        ],
        "variationId": 242579
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2194147",
        "RCV": [
          "RCV002624250"
        ],
        "variationId": 2194147
      }
    ]
  },
  "type": "amino-acid"
}