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.[Pro192_Ser196del;Glu199_Ser209delinsValLeuProGlyArgValSerLeuPro;Gln211_Phe212delinsTrpGlu;Cys214_Asp215delinsHisLeu;Asp217_Cys220delinsAlaValArgLeu]
CA2573050566
ENST00000252444.10:c.570_571del