{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573077763",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 817,
          "referenceAllele": "D",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372213.1:p.Asp817Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123513",
          "hgvs": "NM_001385284.1:c.2450A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2850447376",
          "hgvs": "NM_001385284.1:c.2450_2451delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28891[alleleid]",
        "alleleId": 28891,
        "preferredName": "NM_000222.3(KIT):c.2447A>T (p.Asp816Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13852",
        "RCV": [
          "RCV000014864",
          "RCV000431704",
          "RCV000443179",
          "RCV000444150",
          "RCV000505554",
          "RCV000656675",
          "RCV000656673",
          "RCV000656674",
          "RCV000656676",
          "RCV001269832",
          "RCV002453261"
        ],
        "variationId": 13852
      }
    ]
  },
  "type": "amino-acid"
}