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.[Glu131_Asp136delinsAsn;Ser138_Val146delinsThrAlaArg;Leu148_Gly160del]
CA913191017
ENST00000545707.5:c.391del