{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 715,
          "referenceAllele": "D",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NP_001120693.1:p.Asp715Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254440",
          "hgvs": "NM_001127221.2:c.2145C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA266040",
          "hgvs": "NM_001127221.2:c.2145C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152029"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23536[alleleid]",
        "alleleId": 23536,
        "preferredName": "NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79314[alleleid]",
        "alleleId": 79314,
        "preferredName": "NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8497",
        "RCV": [
          "RCV000009020"
        ],
        "variationId": 8497
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68423",
        "RCV": [
          "RCV000059293",
          "RCV001533161"
        ],
        "variationId": 68423
      }
    ]
  },
  "type": "amino-acid"
}