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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503552.1:p.[Leu554_Gln555insGluGluHisLeu;Ser557_Ala561delinsProGlyGlyGly;Val564_Cys571delinsLeuLeuArgValProArgValGln;Val573_Asn575delinsAlaAlaPro;Leu577_Pro579delinsHis;Thr581_Tyr582delinsArg;Asp584Gln]
CA5293918
ENST00000677626.1:c.1663_1664del