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
ENSP00000453513.2:p.[Leu719_Met727del;His729_Gly737delinsProArgTrp;Gly739_Val747del]
CA10576331
ENST00000560467.2:c.2151del