{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826370604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 276,
          "referenceAllele": "R",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NP_001242992.1:p.Arg276Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6516725",
          "hgvs": "NM_001256063.2:c.827G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159538"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1627542[alleleid]",
        "alleleId": 1627542,
        "preferredName": "NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1622916",
        "RCV": [
          "RCV002108630"
        ],
        "variationId": 1622916
      }
    ]
  },
  "type": "amino-acid"
}