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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Lys350_Gly361delinsLeuAsnGlyGlnGlyProSerTrpTrpIleLeu;Tyr364_Trp365delinsAlaSerCys;Asp367_Trp368delinsGlyLeuThr;Thr370delinsGluLeu;Ala372_Lys375delinsProArgSerArg;Gly378_Leu379delinsAla]
CA2573050603
ENST00000455727.6:c.1048_1049delinsCTGAATG