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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Ser138_Cys143delinsArgLeuArgArgGlyLeuLeu;Val145delinsGlyAlaHis;Thr147_Phe153delinsTrpSerArgGlnLeuProVal;Cys155_Ile161delinsGlnLeuHisLeuHisPro;Gln163_Ala166delinsAlaValGlyLeu]
CA2695238677
ENST00000558518.6:c.407_410dup