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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_Ter466insCysGlyAlaTyrGluProProGlnArgGlyLeuProHisArgValGlnGlyGlyProValLeuProArgGluProAlaAlaGlnArgGlyHisGluAlaHisGlnHisSerLeuHisValProVal
CA411544453
ENST00000675382.1:c.1398A>T
CA411544455
ENST00000675382.1:c.1398A>C