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"referenceSequence": "http://reg.genome.network/refseq/RS701560", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000562631.7:c.671del" }, "RefSeq": { "hgvs": "NM_201525.4:c.671del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000455351.2:p.Asp224AlafsTer?" }, "RefSeq": { "hgvs": "NP_958933.1:p.Asp224AlafsTer?" } } } } ], "type": "nucleotide" }