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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.[Lys693_Cys698delinsAsnLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Thr713delinsGlyGlnGlyHis;Ala715del;Ala717_Thr724delinsLeuProHisArgGly]
CA2497030147
ENST00000557933.5:c.2079_2083del