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      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018177.2:c.1522A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873666.1:p.Asn508His",
        "hgvsWellDefined": "XP_016873666.1:p.Asn508His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "A",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018178.1:c.1522A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873667.1:p.Asn508His",
        "hgvsWellDefined": "XP_016873667.1:p.Asn508His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573252398",
      "coordinates": [
        {
          "allele": "C",
          "end": 2111,
          "referenceAllele": "A",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.4:c.1522A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.2:p.Asn508His",
        "hgvsWellDefined": "NP_008877.2:p.Asn508His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.1522A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.1522A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Asn508His"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Asn508His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}