{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120394",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 68,
          "referenceAllele": "D",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NP_478102.2:p.Asp68His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120391",
          "hgvs": "NM_058195.4:c.202G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24453[alleleid]",
        "alleleId": 24453,
        "preferredName": "NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9414",
        "RCV": [
          "RCV000010021",
          "RCV000160421",
          "RCV000212399",
          "RCV000205342",
          "RCV003473076"
        ],
        "variationId": 9414
      }
    ]
  },
  "type": "amino-acid"
}