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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.[Cys655Leu;Cys657_Met661delinsGlnValTyrLeuArg;Leu663_Ala664delinsProGly;Asp666_Thr672delinsHisAlaAlaGlyGlnGlyHis;Ala674del;Ala676_Thr683delinsLeuProHisArgGly]
CA2695228174
NM_001195799.2:c.1946_1961dup