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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011516443.1:p.[Leu622_Gln623insGluGluHisLeu;Ser625_Ala629delinsProGlyGlyGly;Val632_Cys639delinsLeuLeuArgValProArgValGln;Val641_Asn643delinsAlaAlaPro;Leu645_Pro647delinsHis;Thr649_Tyr650delinsArg;Asp652Gln]
CA5293918
XM_011518141.2:c.1867_1868del