{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915971005",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 50,
          "referenceAllele": "V",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NP_001087241.1:p.Val50Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2923171",
          "hgvs": "NM_001093772.2:c.148G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356896934",
          "hgvs": "NM_001093772.2:c.148G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394105[alleleid]",
        "alleleId": 394105,
        "preferredName": "NM_000222.3(KIT):c.148G>T (p.Val50Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=953812[alleleid]",
        "alleleId": 953812,
        "preferredName": "NM_000222.3(KIT):c.148G>C (p.Val50Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409722",
        "RCV": [
          "RCV000471765",
          "RCV001011866",
          "RCV001147968",
          "RCV001147969",
          "RCV003153627"
        ],
        "variationId": 409722
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/964943",
        "RCV": [
          "RCV001239274"
        ],
        "variationId": 964943
      }
    ]
  },
  "type": "amino-acid"
}