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.[Phe176_Asp192delinsSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp194del;Cys196_Gly205delinsProAlaAlaSerSerAla]
CA10585259
ENST00000455727.6:c.527del