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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Thr734_Arg737delinsSerArgLysAsp;Gln739Ala;Thr741_Arg744delinsAsnHis;Val746_Thr749delinsThrCys;Arg751_Leu752insHis;Gly754Ala;Thr756delinsTrpGlyHis;Gly758_Ile764delinsTrpAlaHisHisGlyGlyAsp]
CA10585806
NM_000527.5:c.2201_2202del