{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA313556",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 284,
          "referenceAllele": "S",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NP_000735.1:p.Ser284Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313555",
          "hgvs": "NM_000744.7:c.851C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147254"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32539[alleleid]",
        "alleleId": 32539,
        "preferredName": "NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17500",
        "RCV": [
          "RCV000019052",
          "RCV000186931",
          "RCV000692832",
          "RCV002316197"
        ],
        "variationId": 17500
      }
    ]
  },
  "type": "amino-acid"
}