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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000361294.4:p.[Trp85Leu;Tyr87_Val93delinsValSerAlaThrGlyAspArgArg;Lys96delinsAlaValProGly;Ser98Pro;Gly100_Tyr101delinsGlu;Ser104_Thr105del;Trp107_Tyr114delinsGluArgGlyGlyAlaProIle]
CA1139532749
ENST00000372220.4:c.253dup