{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829417733",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2202,
          "referenceAllele": "E",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011273",
      "geneNCBI_id": 6709,
      "geneSymbol": "SPTAN1",
      "hgvs": [
        "NP_003118.2:p.Glu2202del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA173593",
          "hgvs": "NM_003127.4:c.6604_6606del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168944"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168788[alleleid]",
        "alleleId": 168788,
        "preferredName": "NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160024",
        "RCV": [
          "RCV000147650",
          "RCV000189543",
          "RCV001236667",
          "RCV004551284"
        ],
        "variationId": 160024
      }
    ]
  },
  "type": "amino-acid"
}