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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.[Trp415Leu;Tyr417_Val423delinsValSerAlaThrGlyAspArgArg;Lys426delinsAlaValProGly;Ser428Pro;Gly430_Tyr431delinsGlu;Ser434_Thr435del;Trp437_Tyr444delinsGluArgGlyGlyAlaProIle]
CA1139532749
XM_011518141.2:c.1243dup