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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.[Trp437Leu;Tyr439_Val445delinsValSerAlaThrGlyAspArgArg;Lys448delinsAlaValProGly;Ser450Pro;Gly452_Tyr453delinsGlu;Ser456_Thr457del;Trp459_Tyr466delinsGluArgGlyGlyAlaProIle]
CA1139532749
XM_011518140.2:c.1309dup