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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.[Leu616del;Ile618_Phe623delinsHisArgAlaProArg;Cys625Pro;Gly627_Phe629delinsProGlyGly;Leu631_Arg636delinsProSerMetGluGlu;Lys638_Asp646delinsAlaAla]
CA2695228325
NM_001195803.2:c.1847_1848del