{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830331561",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 133,
          "referenceAllele": "M",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_705902.2:p.Met133Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408140876",
          "hgvs": "NM_153638.4:c.397A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086993[alleleid]",
        "alleleId": 1086993,
        "preferredName": "NM_001386393.1(PANK2):c.67A>G (p.Met23Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098282",
        "RCV": [
          "RCV001420152",
          "RCV004526850"
        ],
        "variationId": 1098282
      }
    ]
  },
  "type": "amino-acid"
}