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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000381225.1:p.[Ile76Asn;Pro78_Thr87delinsAlaArgTyrSerGluGluAsnArgGlyHis;Met89_Ile92delinsTyrGlyGln;Lys94_Cys103delinsGlnGlnAspTrpGluGluValArgPro;Leu105Val]
CA2654729026
ENST00000398158.5:c.226dup