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
ENSP00000252444.6:p.[Arg210_Phe212delinsProAla;Cys214_Asp217del;Asp219_Cys220del;Asp222_Phe239del]
CA10654843
ENST00000252444.10:c.628dup