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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Cys157_Asn170delinsGlnValGlnValSerGlnArgArg;Ala172_Trp178delinsHisHisProGlyGln;Asp180_Glu185delinsLeuGlnHisGly]
CA645509270
ENST00000545707.5:c.458_467dup