{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916035083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 3029,
          "referenceAllele": "G",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Gly3029Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287042",
          "hgvs": "NM_001351834.2:c.9086G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132925[alleleid]",
        "alleleId": 132925,
        "preferredName": "NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127468",
        "RCV": [
          "RCV000115274",
          "RCV000198158",
          "RCV000212098",
          "RCV000780893",
          "RCV001535462",
          "RCV002288591",
          "RCV001374551",
          "RCV004549574",
          "RCV003492468"
        ],
        "variationId": 127468
      }
    ]
  },
  "type": "amino-acid"
}