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_001340127.2:p.[Trp432Leu;Tyr434_Val440delinsValSerAlaThrGlyAspArgArg;Lys443delinsAlaValProGly;Ser445Pro;Gly447_Tyr448delinsGlu;Ser451_Thr452del;Trp454_Tyr461delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001353198.2:c.1294dup