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Canonical Allele Identifier: Get Identifier
Gene: RECQL4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483145.1:p.[Val144_Thr147del;Gly150_Leu153delinsAlaTyrArg;Tyr155Arg;Leu157Val;Ala159Val;Leu161_Tyr162delinsProAlaPro;Arg164_Ser166delinsAlaAlaLeuGln;Cys168_Thr170delinsAlaGlnPro;Leu171_Val172insProHis;Val172_Val173insGlyArg]
CA1120281189
ENST00000621189.4:c.428dup