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
ENSP00000440520.1:p.[Leu146_Ser154del;Cys156_Trp173del;Cys175_Asp176del;Gly178_Pro179delinsGln]
CA1139666250
ENST00000535915.5:c.437_447del