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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.[Leu671_Gln672insGluGluHisLeu;Ser674_Ala678delinsProGlyGlyGly;Val681_Cys688delinsLeuLeuArgValProArgValGln;Val690_Asn692delinsAlaAlaPro;Leu694_Pro696delinsHis;Thr698_Tyr699delinsArg;Asp701Gln]
CA5293918
NM_001136113.2:c.2014_2015del