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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Ser732_Val736delinsGlnLeuHisSer;Thr738_His740delinsLysAsp;Thr742_Val746delinsAlaHisAsnHis;Asp748_Thr749delinsThrCys;Arg751_Leu752insHis;Gly754Ala;Thr756delinsTrpGlyHis;Gly758_Thr761delinsTrpAlaHisHis]
CA2573156040
XM_011528010.2:c.2193dup