{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741815678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "R",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010600",
      "geneNCBI_id": 6338,
      "geneSymbol": "SCNN1B",
      "hgvs": [
        "NP_000327.2:p.Arg624Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7960664",
          "hgvs": "NM_000336.3:c.1870C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2879183[alleleid]",
        "alleleId": 2879183,
        "preferredName": "NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2713037",
        "RCV": [
          "RCV003548248"
        ],
        "variationId": 2713037
      }
    ]
  },
  "type": "amino-acid"
}