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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000361302.3:p.[Trp486Leu;Tyr488_Val494delinsValSerAlaThrGlyAspArgArg;Lys497delinsAlaValProGly;Ser499Pro;Gly501_Tyr502delinsGlu;Ser505_Thr506del;Trp508_Tyr515delinsGluArgGlyGlyAlaProIle]
CA1139532749
ENST00000372228.9:c.1456dup