{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 73,
          "referenceAllele": "S",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NP_478102.2:p.Ser73Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120402",
          "hgvs": "NM_058195.4:c.219T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA151535",
          "hgvs": "NM_058195.4:c.217A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA373086403",
          "hgvs": "NM_058195.4:c.219T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24462[alleleid]",
        "alleleId": 24462,
        "preferredName": "NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133657[alleleid]",
        "alleleId": 133657,
        "preferredName": "NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=484124[alleleid]",
        "alleleId": 484124,
        "preferredName": "NM_000077.5(CDKN2A):c.176T>A (p.Val59Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9423",
        "RCV": [
          "RCV000010030",
          "RCV000409228",
          "RCV000494082",
          "RCV000545232",
          "RCV001800291",
          "RCV002496319",
          "RCV003473079"
        ],
        "variationId": 9423
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128200",
        "RCV": [
          "RCV000116169",
          "RCV000120544",
          "RCV000411859",
          "RCV001080795",
          "RCV003430665"
        ],
        "variationId": 128200
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/491569",
        "RCV": [
          "RCV000581457"
        ],
        "variationId": 491569
      }
    ]
  },
  "type": "amino-acid"
}