{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826603717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 82,
          "referenceAllele": "E",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008157",
      "geneNCBI_id": 10280,
      "geneSymbol": "SIGMAR1",
      "hgvs": [
        "NP_001269136.1:p.Glu82Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259767",
          "hgvs": "NM_001282207.2:c.244G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39194[alleleid]",
        "alleleId": 39194,
        "preferredName": "NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30238",
        "RCV": [
          "RCV000023162",
          "RCV001852015",
          "RCV002444439"
        ],
        "variationId": 30238
      }
    ]
  },
  "type": "amino-acid"
}