{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827606297",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1481,
          "referenceAllele": "S",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338226.1:p.Ser1481Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379783515",
          "hgvs": "NM_001351297.2:c.4443C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379783518",
          "hgvs": "NM_001351297.2:c.4443C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379783533",
          "hgvs": "NM_001351297.2:c.4441A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625508"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545852[alleleid]",
        "alleleId": 545852,
        "preferredName": "NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329654[alleleid]",
        "alleleId": 1329654,
        "preferredName": "NM_000352.6(ABCC8):c.4444A>C (p.Ser1482Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551204",
        "RCV": [
          "RCV000666196",
          "RCV002245083",
          "RCV002245084",
          "RCV003151131"
        ],
        "variationId": 551204
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338647",
        "RCV": [
          "RCV001818018"
        ],
        "variationId": 1338647
      }
    ]
  },
  "type": "amino-acid"
}