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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Asn520Gln;His522_Cys530delinsProLeuAlaGlnValTyrLeuArgLeu;Asp532del;Met534_Leu536delinsArgHisAla;Arg538_Cys543delinsGlyGlnGlyHisGluGlu;Thr545_Glu548delinsProHisArgGly]
CA10585755
ENST00000455727.6:c.1556dup