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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_024303149.1:p.[Leu396_Gln397insGluGluHisLeu;Ser399_Ala403delinsProGlyGlyGly;Val406_Cys413delinsLeuLeuArgValProArgValGln;Val415_Asn417delinsAlaAlaPro;Leu419_Pro421delinsHis;Thr423_Tyr424delinsArg;Asp426Gln]
CA5293918
XM_024447381.1:c.1189_1190del