{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA194899",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1592,
          "referenceAllele": "E",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Glu1592Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA194897",
          "hgvs": "NM_000051.4:c.4776G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382535223",
          "hgvs": "NM_000051.4:c.4776G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183299[alleleid]",
        "alleleId": 183299,
        "preferredName": "NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1809079[alleleid]",
        "alleleId": 1809079,
        "preferredName": "NM_000051.4(ATM):c.4776G>T (p.Glu1592Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186464",
        "RCV": [
          "RCV000166063",
          "RCV000548784"
        ],
        "variationId": 186464
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1742998",
        "RCV": [
          "RCV002337752"
        ],
        "variationId": 1742998
      }
    ]
  },
  "type": "amino-acid"
}