{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139677760",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Gly865Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8709554",
          "hgvs": "NM_000334.4:c.2593G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA8709555",
          "hgvs": "NM_000334.4:c.2593G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=845882[alleleid]",
        "alleleId": 845882,
        "preferredName": "NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=878157[alleleid]",
        "alleleId": 878157,
        "preferredName": "NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/850176",
        "RCV": [
          "RCV001054286",
          "RCV003405261"
        ],
        "variationId": 850176
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/889452",
        "RCV": [
          "RCV001123385",
          "RCV001127501",
          "RCV001127500",
          "RCV001127498",
          "RCV001127499",
          "RCV002261283",
          "RCV003246706"
        ],
        "variationId": 889452
      }
    ]
  },
  "type": "amino-acid"
}