{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA203094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 218,
          "referenceAllele": "D",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019743",
      "geneNCBI_id": 29954,
      "geneSymbol": "POMT2",
      "hgvs": [
        "NP_037514.2:p.Asp218Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203092",
          "hgvs": "NM_013382.7:c.652G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173307"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194956[alleleid]",
        "alleleId": 194956,
        "preferredName": "NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197795",
        "RCV": [
          "RCV000178927",
          "RCV000335274",
          "RCV000553857",
          "RCV001081717"
        ],
        "variationId": 197795
      }
    ]
  },
  "type": "amino-acid"
}