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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.[Trp460Leu;Tyr462_Val468delinsValSerAlaThrGlyAspArgArg;Lys471delinsAlaValProGly;Ser473Pro;Gly475_Tyr476delinsGlu;Ser479_Thr480del;Trp482_Tyr489delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001374689.1:c.1378dup