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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Lys518_Gly529delinsLeuAsnGlyGlnGlyProSerTrpTrpIleLeu;Tyr532_Trp533delinsAlaSerCys;Asp535_Trp536delinsGlyLeuThr;Thr538delinsGluLeu;Ala540_Lys543delinsProArgSerArg;Gly546_Leu547delinsAla]
CA2573050603
ENST00000557933.5:c.1552_1553delinsCTGAATG