This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070834.1:p.[Trp410Leu;Tyr412_Val418delinsValSerAlaThrGlyAspArgArg;Lys421delinsAlaValProGly;Ser423Pro;Gly425_Tyr426delinsGlu;Ser429_Thr430del;Trp432_Tyr439delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001077366.2:c.1228dup