{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916045273",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 750,
          "referenceAllele": "I",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NP_001352465.1:p.Ile750Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA171007",
          "hgvs": "NM_001365536.1:c.2248A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622799"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167458[alleleid]",
        "alleleId": 167458,
        "preferredName": "NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157597",
        "RCV": [
          "RCV000144932",
          "RCV000218739",
          "RCV000281545",
          "RCV000284837",
          "RCV000398464",
          "RCV000416064",
          "RCV000986925",
          "RCV001083229",
          "RCV001094589",
          "RCV002415629",
          "RCV004532638"
        ],
        "variationId": 157597
      }
    ]
  },
  "type": "amino-acid"
}