{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113070",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 411,
          "referenceAllele": "V",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000048",
      "geneNCBI_id": 22,
      "geneSymbol": "ABCB7",
      "hgvs": [
        "NP_001258625.1:p.Val411Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341105",
          "hgvs": "NM_001271696.2:c.1231G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA331330762",
          "hgvs": "NM_001271696.2:c.1231G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161057"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26615[alleleid]",
        "alleleId": 26615,
        "preferredName": "NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3394204[alleleid]",
        "alleleId": 3394204,
        "preferredName": "NM_001271696.3(ABCB7):c.1231G>T (p.Val411Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11576",
        "RCV": [
          "RCV000012332"
        ],
        "variationId": 11576
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3235083",
        "RCV": [
          "RCV004547420"
        ],
        "variationId": 3235083
      }
    ]
  },
  "type": "amino-acid"
}