{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA177828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_000326.2:p.Ala572Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015266",
          "hgvs": "NM_000335.5:c.1715C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78578[alleleid]",
        "alleleId": 78578,
        "preferredName": "NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67683",
        "RCV": [
          "RCV000058447",
          "RCV000151795",
          "RCV000157480",
          "RCV000143951",
          "RCV000157481",
          "RCV000244195",
          "RCV000264595",
          "RCV000268589",
          "RCV000326049",
          "RCV000360867",
          "RCV000438831",
          "RCV001094811",
          "RCV000852965",
          "RCV001842295",
          "RCV003486630",
          "RCV002504971"
        ],
        "variationId": 67683
      }
    ]
  },
  "type": "amino-acid"
}