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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Val736_Thr742delinsGlnLeuHisSerArgLysAsp;Arg744_Asp748delinsAlaHisAsnHisPro;Thr749_Ser750insCys;Arg751_Leu752insHis;Gly754Ala;Thr756delinsTrpGlyHis;Gly758_Ile764delinsTrpAlaHisHisGlyGlyAspSer]
CA2695228317
ENST00000558518.6:c.2192_2204dup