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.[Asp365_Val367delinsThr;Gly369_Val371del;Val373Trp;Asp375_Thr383delinsLeuSerLeu;Phe385del;Glu387_Lys391delinsIle]
CA645373232
ENST00000545707.5:c.1093del