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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.[Ser65_Ser70delinsGlyLeuGlnGlnIleArg;Asp72_Cys75delinsLeuGlnLeuTrp;Gly77_Asn97delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGln]
CA2580096350
ENST00000545707.5:c.193_202delinsGGACTTCA