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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Leu146_Gly149del;Ala151_Phe153delinsValGln;Cys155_Gln163delinsLeuHisLeuHisProProAlaValGly;Trp165_Asp170delinsArgGlnArg;Asp172_Glu179delinsArgLeuArgArg;Pro181_Gln182delinsLeuGly]
CA2582473461
NM_000527.5:c.435_457del