{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124386",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 247,
          "referenceAllele": "N",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NP_899066.1:p.Asn247Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124382",
          "hgvs": "NM_183243.3:c.741T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA369171839",
          "hgvs": "NM_183243.3:c.741T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29877[alleleid]",
        "alleleId": 29877,
        "preferredName": "NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1393352[alleleid]",
        "alleleId": 1393352,
        "preferredName": "NM_000883.4(IMPDH1):c.849T>A (p.Asn283Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14838",
        "RCV": [
          "RCV000015963"
        ],
        "variationId": 14838
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1457411",
        "RCV": [
          "RCV001972635"
        ],
        "variationId": 1457411
      }
    ]
  },
  "type": "amino-acid"
}