{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827513921",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "A",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000047",
      "geneNCBI_id": 10058,
      "geneSymbol": "ABCB6",
      "hgvs": [
        "NP_001336757.1:p.Ala446Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2119370",
          "hgvs": "NM_001349828.2:c.1336G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1292278[alleleid]",
        "alleleId": 1292278,
        "preferredName": "NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301996",
        "RCV": [
          "RCV001733860",
          "RCV001733862",
          "RCV001733861",
          "RCV001733863",
          "RCV002073995",
          "RCV003913358"
        ],
        "variationId": 1301996
      }
    ]
  },
  "type": "amino-acid"
}