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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.[Tyr511_Leu514delinsLeuSerValPro;Ala516Cys;Gln518_Asn520delinsAlaAspGln;His522_Cys530delinsProLeuAlaGlnValTyrLeuArgLeu;Asp532del;Met534_Leu536delinsArgHisAla;Arg538_Met540delinsGlyGlnGlyHis]
CA10585736
ENST00000455727.6:c.1531dup