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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.[Trp464Leu;Tyr466_Val472delinsValSerAlaThrGlyAspArgArg;Lys475delinsAlaValProGly;Ser477Pro;Gly479_Tyr480delinsGlu;Ser483_Thr484del;Trp486_Tyr493delinsGluArgGlyGlyAlaProIle]
CA1139532749
NM_001136113.2:c.1390dup