{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580430345",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 401,
          "referenceAllele": "S",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025790",
      "geneNCBI_id": 60493,
      "geneSymbol": "FASTKD5",
      "hgvs": [
        "NP_068598.1:p.Ser401Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9740072",
          "hgvs": "NM_021826.5:c.1202C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177578"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2208026[alleleid]",
        "alleleId": 2208026,
        "preferredName": "NM_021826.5(FASTKD5):c.1202C>T (p.Ser401Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224606",
        "RCV": [
          "RCV004086725"
        ],
        "variationId": 2224606
      }
    ]
  },
  "type": "amino-acid"
}