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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011516442.1:p.[Leu644_Gln645insGluGluHisLeu;Ser647_Ala651delinsProGlyGlyGly;Val654_Cys661delinsLeuLeuArgValProArgValGln;Val663_Asn665delinsAlaAlaPro;Leu667_Pro669delinsHis;Thr671_Tyr672delinsArg;Asp674Gln]
CA5293918
XM_011518140.2:c.1933_1934del