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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Pro121Gln;Trp124_Asp129delinsHisLeuHisPro;Asp131_Asp134delinsAlaVal;Ser136_Trp139delinsLeuArgGlnArg;Gln141_Cys143delinsArgLeuArg;Gly145Trp;Tyr147_Gln150delinsGly]
CA10584935
NM_001195799.2:c.343_361dup