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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Thr449_Cys450delinsArgVal;Gln452_Asn456delinsGlySerArgHis;Glu458_Cys465delinsGlnProAlaLeuArg;Glu467Pro;Phe469_Gln470delinsGlyTrp;Asp472_Cys478delinsGlnValProVal]
CA2695238674
ENST00000252444.10:c.1327_1345dup