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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.[Glu482_Val485delinsTyrGlySer;Phe487_Thr491delinsPro;Arg494_Cys499delinsHisProAlaLysArgSer;Arg501_Thr503del;Ser505_Leu512delinsVal]
CA2830773965
ENST00000455727.6:c.1444_1448del