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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Leu621_Phe623delinsProArg;Cys625Pro;Gly627_Phe629delinsProGlyGly;Leu631_Arg636delinsProSerMetGluGlu;Lys638_Tyr650delinsAlaAla]
CA2580096309
NM_001195803.2:c.1861dup