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
ENSP00000453346.1:p.[Glu435_Asn439del;Ile441_Tyr442del;Ser444_Met450delinsProAla;Cys452Glu;Gln455Gly;Asp457_Ser464delinsThrCysProArgGlu]
CA10585394
ENST00000558013.5:c.1303del