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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Glu101_Cys104delinsSerLysAlaVal;Lys107_Glu113delinsArgArgAlaProArgThrSer;Arg115_Asp118delinsAlaAlaThrMet;Lys120_Ser130delinsSerAlaSerLeuGlySerSerSerValThrGln]
CA10584835
XM_011528010.2:c.301del