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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.[Leu794del;Ile796_Phe801delinsHisArgAlaProArg;Cys803Pro;Gly805_Phe807delinsProGlyGly;Leu809_Arg814delinsProSerMetGluGlu;Lys816_Asp824delinsAlaAla]
CA2695228325
NM_000527.5:c.2381_2382del