{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA321820",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 401,
          "referenceAllele": "I",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000048",
      "geneNCBI_id": 22,
      "geneSymbol": "ABCB7",
      "hgvs": [
        "NP_004290.2:p.Ile401Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321819",
          "hgvs": "NM_004299.6:c.1203T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170012"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26613[alleleid]",
        "alleleId": 26613,
        "preferredName": "NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11574",
        "RCV": [
          "RCV000012330",
          "RCV000197371"
        ],
        "variationId": 11574
      }
    ]
  },
  "type": "amino-acid"
}