{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828971186",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 817,
          "referenceAllele": "N",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372215.1:p.Asn817Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602411",
          "hgvs": "NM_001385286.1:c.2451T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16602412",
          "hgvs": "NM_001385286.1:c.2451T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735834"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362810[alleleid]",
        "alleleId": 362810,
        "preferredName": "NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362811[alleleid]",
        "alleleId": 362811,
        "preferredName": "NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375931",
        "RCV": [
          "RCV000429954",
          "RCV000419670",
          "RCV000436687",
          "RCV001269701"
        ],
        "variationId": 375931
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375932",
        "RCV": [
          "RCV000419001",
          "RCV000429190",
          "RCV000439434",
          "RCV001269906"
        ],
        "variationId": 375932
      }
    ]
  },
  "type": "amino-acid"
}