{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3080622730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 757,
          "referenceAllele": "E",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NP_005836.2:p.Glu757Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7019254",
          "hgvs": "NM_005845.5:c.2269G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171440"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4795254[alleleid]",
        "alleleId": 4795254,
        "preferredName": "NM_005845.5(ABCC4):c.2269G>A (p.Glu757Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4683814",
        "RCV": [
          "RCV006441122"
        ],
        "variationId": 4683814
      }
    ]
  },
  "type": "amino-acid"
}