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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503356.1:p.[Trp347Leu;Tyr349_Val355delinsValSerAlaThrGlyAspArgArg;Lys358delinsAlaValProGly;Ser360Pro;Gly362_Tyr363delinsGlu;Ser366_Thr367del;Trp369_Tyr376delinsGluArgGlyGlyAlaProIle]
CA1139532749
ENST00000679189.1:c.1039dup