{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453506",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Gly1046Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8709386",
          "hgvs": "NM_000334.4:c.3136G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=339656[alleleid]",
        "alleleId": 339656,
        "preferredName": "NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324524",
        "RCV": [
          "RCV000298316",
          "RCV000301675",
          "RCV000341585",
          "RCV000393109",
          "RCV000479192",
          "RCV000697130",
          "RCV000766442",
          "RCV002523001"
        ],
        "variationId": 324524
      }
    ]
  },
  "type": "amino-acid"
}