{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916034212",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 2374,
          "referenceAllele": "E",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Glu2374Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA298046",
          "hgvs": "NM_001351834.2:c.7122A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382559445",
          "hgvs": "NM_001351834.2:c.7122A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180498[alleleid]",
        "alleleId": 180498,
        "preferredName": "NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1460959[alleleid]",
        "alleleId": 1460959,
        "preferredName": "NM_000051.4(ATM):c.7122A>T (p.Glu2374Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181887",
        "RCV": [
          "RCV000159647",
          "RCV000212058",
          "RCV000472815",
          "RCV001731406"
        ],
        "variationId": 181887
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1385811",
        "RCV": [
          "RCV001905624"
        ],
        "variationId": 1385811
      }
    ]
  },
  "type": "amino-acid"
}