{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916055242",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "I",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NP_478104.2:p.Ile49Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287160",
          "hgvs": "NM_058197.5:c.146T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180613"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132980[alleleid]",
        "alleleId": 132980,
        "preferredName": "NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127523",
        "RCV": [
          "RCV000115331",
          "RCV000122945",
          "RCV000212398",
          "RCV000412396",
          "RCV000761151",
          "RCV001001912",
          "RCV001292944",
          "RCV001535568",
          "RCV003444104",
          "RCV003891607"
        ],
        "variationId": 127523
      }
    ]
  },
  "type": "amino-acid"
}