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
ENSP00000437639.1:p.[Glu230_Asp233delinsValArgIle;Asp235del;Cys237del;Gln239_Cys241del;Asn243_Asp259delinsArgIleProThrProAlaAlaSerSerAla]
CA2582474404
ENST00000545707.5:c.688_689insTCAGGATCCCGACG