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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.[Arg737_His740delinsLysAsp;Thr742_Val746delinsAlaHisAsnHis;Asp748_Thr749delinsThrCys;Arg751_Leu752insHis;Gly754Ala;Thr756delinsTrpGlyHis;Gly758_Val765delinsTrpAlaHisHisGlyGlyAspSerAsp]
CA10585807
ENST00000558518.6:c.2207dup