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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Thr383_Lys391delinsSerTyrSerGlyArgThrAla;Arg393_Gly402delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr405_Trp406delinsAlaSerCys;Asp408_Trp409delinsGlyLeuThr;Thr411delinsGluLeu]
CA16602331
ENST00000545707.5:c.1148del