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.Asp183_Glu187del
CA645373229
NM_001195799.2:c.546_560delinsAACTGCGGTAAACTGCGGTAAACT
CA658653703
NM_001195799.2:c.549_563del