{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916075850",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 137,
          "referenceAllele": "P",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016088",
      "geneNCBI_id": 119559,
      "geneSymbol": "SFXN4",
      "hgvs": [
        "NP_998814.1:p.Pro137Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5714559",
          "hgvs": "NM_213649.2:c.410C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186131"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=796368[alleleid]",
        "alleleId": 796368,
        "preferredName": "NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/806576",
        "RCV": [
          "RCV000994518",
          "RCV001333781",
          "RCV004030177"
        ],
        "variationId": 806576
      }
    ]
  },
  "type": "amino-acid"
}