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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503093.1:p.[Leu358_Gln359insGluGluHisLeu;Ser361_Ala365delinsProGlyGlyGly;Val368_Cys375delinsLeuLeuArgValProArgValGln;Val377_Asn379delinsAlaAlaPro;Leu381_Pro383delinsHis;Thr385_Tyr386delinsArg;Asp388Gln]
CA5293918
ENST00000676803.1:c.1075_1076del