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
ENSP00000453346.1:p.[Arg215_Gly219delinsHis;Asp221_Cys231delinsLeuGlnLeu;Val233_Ser244delinsLeu]
CA2695223205
ENST00000558013.5:c.628_643dup