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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Leu753del;Ile755_Phe760delinsHisArgAlaProArg;Cys762Pro;Gly764_Phe766delinsProGlyGly;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Asp783delinsAlaAla]
CA2695228325
NM_001195799.2:c.2258_2259del