{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825360170",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1563,
          "referenceAllele": "L",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001035233.1:p.Leu1563Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122769",
          "hgvs": "NM_001040143.2:c.4687C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27916[alleleid]",
        "alleleId": 27916,
        "preferredName": "NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12877",
        "RCV": [
          "RCV000013737",
          "RCV002319421",
          "RCV002513022",
          "RCV000255820"
        ],
        "variationId": 12877
      }
    ]
  },
  "type": "amino-acid"
}