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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.[Trp434Leu;Tyr436_Val442delinsValSerAlaThrGlyAspArgArg;Lys445delinsAlaValProGly;Ser447Pro;Gly449_Tyr450delinsGlu;Ser453_Thr454del;Trp456_Tyr463delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001353196.2:c.1300dup