{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828969494",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 318,
          "referenceAllele": "M",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001372215.1:p.Met318Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA211569",
          "hgvs": "NM_001385286.1:c.952A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735834"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171098[alleleid]",
        "alleleId": 171098,
        "preferredName": "NM_000222.3(KIT):c.952A>G (p.Met318Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161260",
        "RCV": [
          "RCV000228971",
          "RCV001019462",
          "RCV001148079",
          "RCV001148080",
          "RCV003126544"
        ],
        "variationId": 161260
      }
    ]
  },
  "type": "amino-acid"
}