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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_024303148.1:p.[Leu294_Gln295insGluGluHisLeu;Ser297_Ala301delinsProGlyGlyGly;Val304_Cys311delinsLeuLeuArgValProArgValGln;Val313_Asn315delinsAlaAlaPro;Leu317_Pro319delinsHis;Thr321_Tyr322delinsArg;Asp324Gln]
CA5293918
XM_024447380.1:c.883_884del