{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139730127",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1464,
          "referenceAllele": "E",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000059",
      "geneNCBI_id": 6833,
      "geneSymbol": "ABCC8",
      "hgvs": [
        "NP_001338224.1:p.Glu1464Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5902491",
          "hgvs": "NM_001351295.2:c.4391A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660413"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=818721[alleleid]",
        "alleleId": 818721,
        "preferredName": "NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/830318",
        "RCV": [
          "RCV001030758",
          "RCV002245834",
          "RCV002245835",
          "RCV003736960"
        ],
        "variationId": 830318
      }
    ]
  },
  "type": "amino-acid"
}