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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.[Trp312Leu;Tyr314_Val320delinsValSerAlaThrGlyAspArgArg;Lys323delinsAlaValProGly;Ser325Pro;Gly327_Tyr328delinsGlu;Ser331_Thr332del;Trp334_Tyr341delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001353200.2:c.934dup