{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828180188",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 228,
          "referenceAllele": "I",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NP_001352465.1:p.Ile228Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206037",
          "hgvs": "NM_001365536.1:c.684C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622799"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195314[alleleid]",
        "alleleId": 195314,
        "preferredName": "NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198153",
        "RCV": [
          "RCV000179414",
          "RCV000192901",
          "RCV000515449",
          "RCV000540917",
          "RCV001133337",
          "RCV001133338",
          "RCV001133339",
          "RCV001195747",
          "RCV002362922"
        ],
        "variationId": 198153
      }
    ]
  },
  "type": "amino-acid"
}