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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Arg744_Val746delinsAspLeuPhe;Asp748del;Ser750_Leu752delinsPro;Ala755_Pro757delinsCysLeu;Leu759_Met767delinsProProLeuGly;His769_Gly773delinsProArgTrpArg]
CA10585811
NM_001195798.2:c.2230del