{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA203840",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NP_950238.1:p.Cys121Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203839",
          "hgvs": "NM_199037.5:c.363C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185327"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24291[alleleid]",
        "alleleId": 24291,
        "preferredName": "NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9252",
        "RCV": [
          "RCV000009834",
          "RCV000030434",
          "RCV000171041",
          "RCV000184010",
          "RCV000646741",
          "RCV000763042",
          "RCV002316188",
          "RCV004532319"
        ],
        "variationId": 9252
      }
    ]
  },
  "type": "amino-acid"
}