{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580112416",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 221,
          "referenceAllele": "Q",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NP_000415.2:p.Gln221Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384927631",
          "hgvs": "NM_000424.4:c.662A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146967"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2286504[alleleid]",
        "alleleId": 2286504,
        "preferredName": "NM_000424.4(KRT5):c.662A>T (p.Gln221Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2291952",
        "RCV": [
          "RCV002864857"
        ],
        "variationId": 2291952
      }
    ]
  },
  "type": "amino-acid"
}