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.[Glu199_Asp204del;Lys206_Ser209delinsValSerLeuPro;Gln211_Phe212delinsTrpGlu;Cys214_Asp215delinsHisLeu;Asp217_Cys220delinsAlaValArg;Asp222_Ser228del]
CA9204948
ENST00000252444.10:c.595dup