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.[Lys167_Cys169del;Met171_Cys191del;Asp193_Gly196delinsGlnHis]
CA645373255
ENST00000545707.5:c.501_502del