{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105548",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NP_005680.1:p.Gly579Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144713",
          "hgvs": "NM_005689.4:c.1736G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171308"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75602[alleleid]",
        "alleleId": 75602,
        "preferredName": "NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64648",
        "RCV": [
          "RCV000054818"
        ],
        "variationId": 64648
      }
    ]
  },
  "type": "amino-acid"
}