{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825245056",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 288,
          "referenceAllele": "E",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NP_001002235.1:p.Glu288Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127679",
          "hgvs": "NM_001002235.3:c.863A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645511342",
          "hgvs": "NM_001002235.3:c.[863A>T;602A>G]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645511343",
          "hgvs": "NM_001002235.3:c.[863A>T;190C>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33008[alleleid]",
        "alleleId": 33008,
        "preferredName": "NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17969",
        "RCV": [
          "RCV000019569",
          "RCV000148878",
          "RCV000177031",
          "RCV000762932",
          "RCV000991136",
          "RCV001195102",
          "RCV002466248",
          "RCV002371777",
          "RCV003415722"
        ],
        "variationId": 17969
      }
    ]
  },
  "type": "amino-acid"
}