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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503718.1:p.[Trp410Leu;Tyr412_Val418delinsValSerAlaThrGlyAspArgArg;Lys421delinsAlaValProGly;Ser423Pro;Gly425_Tyr426delinsGlu;Ser429_Thr430del;Trp432_Tyr439delinsGluArgGlyGlyAlaProIle]
CA1139532749
ENST00000679023.1:c.1228dup