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.[Asp375_Lys377del;Val379_Lys391delinsIle;Ile395_Met404del]
CA2499225320
ENST00000545707.5:c.1122_1123dup