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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.[Trp334Leu;Tyr336_Val342delinsValSerAlaThrGlyAspArgArg;Lys345delinsAlaValProGly;Ser347Pro;Gly349_Tyr350delinsGlu;Ser353_Thr354del;Trp356_Tyr363delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001374695.1:c.1000dup