{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829022654",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 538,
          "referenceAllele": "M",
          "start": 537
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      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001385292.1:c.1612A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356907339",
          "hgvs": "NM_001385292.1:c.1612A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735801"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50038[alleleid]",
        "alleleId": 50038,
        "preferredName": "NM_000222.3(KIT):c.1621A>C (p.Met541Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=721001[alleleid]",
        "alleleId": 721001,
        "preferredName": "NM_000222.3(KIT):c.1621A>T (p.Met541Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41599",
        "RCV": [
          "RCV000034504",
          "RCV000121313",
          "RCV000261290",
          "RCV000315844",
          "RCV000370023",
          "RCV000422326",
          "RCV001012439",
          "RCV001255636"
        ],
        "variationId": 41599
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/715131",
        "RCV": [
          "RCV000887556",
          "RCV001012440",
          "RCV003222166"
        ],
        "variationId": 715131
      }
    ]
  },
  "type": "amino-acid"
}