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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.[Gly149_Ala151delinsValTrp;Phe153Arg;Cys155_Trp165delinsLeuProValGlnGlnLeuHisLeuHisProPro;Cys167_Asp170delinsValGlyLeuArgGlnArg;Asp172_Asp178delinsArgLeuArgArgTrpLeuGly]
CA2573050570
ENST00000557933.5:c.442_445dup