{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825205463",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 44,
          "referenceAllele": "F",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NP_000508.1:p.Phe44Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA276414606",
          "hgvs": "NM_000517.6:c.132C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393993334",
          "hgvs": "NM_000517.6:c.130T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393993341",
          "hgvs": "NM_000517.6:c.132C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30782[alleleid]",
        "alleleId": 30782,
        "preferredName": "NM_000558.5(HBA1):c.132C>G (p.Phe44Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4926308[alleleid]",
        "alleleId": 4926308,
        "preferredName": "NM_000517.6(HBA2):c.130T>C (p.Phe44Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15743",
        "RCV": [
          "RCV000017048"
        ],
        "variationId": 15743
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4818620",
        "RCV": [
          "RCV006645331"
        ],
        "variationId": 4818620
      }
    ]
  },
  "type": "amino-acid"
}