{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580281975",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 258,
          "referenceAllele": "K",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011109",
      "geneNCBI_id": 6605,
      "geneSymbol": "SMARCE1",
      "hgvs": [
        "NP_003070.3:p.Lys258Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399364357",
          "hgvs": "NM_003079.5:c.772A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168898"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2408762[alleleid]",
        "alleleId": 2408762,
        "preferredName": "NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2436142",
        "RCV": [
          "RCV003136892"
        ],
        "variationId": 2436142
      }
    ]
  },
  "type": "amino-acid"
}