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
ENSP00000397829.2:p.[His292_Ala307del;Asp309_Leu311del;Val313_Leu327del]
CA10585434
ENST00000455727.6:c.875_892delinsCAGCTTA