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"proteinEffect": { "hgvs": "NP_203699.1:p.Gln468Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.1402C>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.1402C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gln468Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gln468Ter" } } } } ], "type": "nucleotide" }