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
XP_011526312.1:p.[Cys364_Lys390delinsAlaAlaSerSer;Cys392_Lys393del]
CA2695228149
XM_011528010.2:c.1090del