{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA144867",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 770,
          "referenceAllele": "I",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NP_000711.1:p.Ile770Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144866",
          "hgvs": "NM_000720.4:c.2310C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147232"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76975[alleleid]",
        "alleleId": 76975,
        "preferredName": "NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66073",
        "RCV": [
          "RCV000056308",
          "RCV000122488"
        ],
        "variationId": 66073
      }
    ]
  },
  "type": "amino-acid"
}