{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828390871",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1013,
          "referenceAllele": "E",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NP_001357073.1:p.Glu1013del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10587091",
          "hgvs": "NM_001370144.1:c.3027_3029del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573145644",
          "hgvs": "NM_001370144.1:c.3036_3038del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2609745708",
          "hgvs": "NM_001370144.1:c.3033_3035del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2609745709",
          "hgvs": "NM_001370144.1:c.3038_3040del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708038"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253850[alleleid]",
        "alleleId": 253850,
        "preferredName": "NM_012330.4(KAT6B):c.4092_4094del (p.Glu1368del)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=552633[alleleid]",
        "alleleId": 552633,
        "preferredName": "NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1545210[alleleid]",
        "alleleId": 1545210,
        "preferredName": "NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1563573[alleleid]",
        "alleleId": 1563573,
        "preferredName": "NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260242",
        "RCV": [
          "RCV000254483"
        ],
        "variationId": 260242
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/561618",
        "RCV": [
          "RCV000680949",
          "RCV000767998",
          "RCV002544700",
          "RCV001436261",
          "RCV004535696"
        ],
        "variationId": 561618
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1558908",
        "RCV": [
          "RCV002200311"
        ],
        "variationId": 1558908
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1632816",
        "RCV": [
          "RCV002139802"
        ],
        "variationId": 1632816
      }
    ]
  },
  "type": "amino-acid"
}