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_001182728.1:p.[Cys323_Lys349delinsAlaAlaSerSer;Cys351_Lys352del]
CA2695228149
NM_001195799.2:c.967del