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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Val690_Val695delinsGlyGlnLeuHisSer;Thr697_His699delinsLysAsp;Thr701_Val705delinsAlaHisAsnHis;Asp707_Thr708delinsThrCys;Arg710_Leu711insHis;Gly713Ala;Thr715delinsTrpGlyHis;Gly717delinsTrpAla]
CA10585801
NM_001195799.2:c.2063dup