{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645473111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1672,
          "referenceAllele": "K",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NP_112224.1:p.Lys1672del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5880839",
          "hgvs": "NM_030962.4:c.5014_5016del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379632617",
          "hgvs": "NM_030962.4:c.5013_5015del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179042"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384516[alleleid]",
        "alleleId": 384516,
        "preferredName": "NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397621",
        "RCV": [
          "RCV000449588",
          "RCV000498336",
          "RCV000513369",
          "RCV000626094",
          "RCV000540860",
          "RCV002339104"
        ],
        "variationId": 397621
      }
    ]
  },
  "type": "amino-acid"
}