{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658818513",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 815,
          "referenceAllele": "D",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NP_008853.3:p.Asp815Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1938952",
          "hgvs": "NM_006922.4:c.2443G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172429"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513176[alleleid]",
        "alleleId": 513176,
        "preferredName": "NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522564",
        "RCV": [
          "RCV000625709",
          "RCV001855321",
          "RCV002252180"
        ],
        "variationId": 522564
      }
    ]
  },
  "type": "amino-acid"
}