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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.[Lys43_Gly48delinsAsnGlySerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Phe73delinsThr]
CA2497030145
ENST00000558518.6:c.129del