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
ENSP00000440520.1:p.[Glu72_Ser82delinsValLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Cys93delinsHis;Asp95_Gly96del;Asp98_Glu99del;Ser101_Pro103delinsValArgLeu]
CA2695223191
ENST00000535915.5:c.215_220delinsT