{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826647223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 463,
          "referenceAllele": "D",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NP_001269384.1:p.Asp463Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA290081",
          "hgvs": "NM_001282455.2:c.1389C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA370807793",
          "hgvs": "NM_001282455.2:c.1389C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162420"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140456[alleleid]",
        "alleleId": 140456,
        "preferredName": "NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136753",
        "RCV": [
          "RCV000124278",
          "RCV001080927",
          "RCV000768183",
          "RCV000419685",
          "RCV003905194",
          "RCV002312821"
        ],
        "variationId": 136753
      }
    ]
  },
  "type": "amino-acid"
}