{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA151931",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1853,
          "referenceAllele": "D",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Asp1853Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA151929",
          "hgvs": "NM_000051.4:c.5557G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA1139662321",
          "hgvs": "NM_000051.4:c.5556_5557delinsGA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133907[alleleid]",
        "alleleId": 133907,
        "preferredName": "NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917071[alleleid]",
        "alleleId": 917071,
        "preferredName": "NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128458",
        "RCV": [
          "RCV000116427",
          "RCV000131720",
          "RCV000316554",
          "RCV002225338",
          "RCV003315664",
          "RCV000710673"
        ],
        "variationId": 128458
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/929198",
        "RCV": [
          "RCV001194298",
          "RCV001423192",
          "RCV002221615",
          "RCV002348640",
          "RCV003229020"
        ],
        "variationId": 929198
      }
    ]
  },
  "type": "amino-acid"
}