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Canonical Allele Identifier: Get Identifier
Gene: BTD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397113.2:p.[Glu392del;Tyr394Arg;His396_Tyr405delinsSerProArgLeuPheGlnTrpProLeuLeu;Leu407_Glu409delinsPheThrLeu;Pro411_Thr412delinsGluAlaHis;Ser414_Leu420delinsIleGlnArgAlaValCysPro;Gly421dup]
CA2664667157
ENST00000427382.2:c.1172dup