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
ENSP00000397829.2:p.[Ser325_Val326del;Gly328_Val330del;Val332Trp;Asp334_Thr342delinsLeuSerLeu;Phe344del;Glu346_Lys350delinsIle;Ile354del]
CA16602330
ENST00000455727.6:c.974del