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Canonical Allele Identifier: Get Identifier
Gene: LARGE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501800.1:p.Leu465_Ter466insSerGlyAlaTyrGluProProGlnArgGlyLeuProHisArgValGlnGlyGlyProValLeuProArgGluProAlaAlaGlnArgGlyHisGluAlaHisGlnHisSerLeuHisValProVal
CA411544457
ENST00000675382.1:c.1397G>C