This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Gln33_Ile40delinsAlaSerProThrSerGly;Tyr42_Gly48delinsAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Cys68delinsProAla]
CA2573155693
NM_001195800.2:c.97_115del