{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA163439",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 130,
          "referenceAllele": "A",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020665",
      "geneNCBI_id": 55800,
      "geneSymbol": "SCN3B",
      "hgvs": [
        "NP_060870.1:p.Ala130Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA163437",
          "hgvs": "NM_018400.3:c.389C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176241"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150289[alleleid]",
        "alleleId": 150289,
        "preferredName": "NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140597",
        "RCV": [
          "RCV000128813",
          "RCV000480040",
          "RCV001320720"
        ],
        "variationId": 140597
      }
    ]
  },
  "type": "amino-acid"
}