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
ENSP00000453557.1:p.[Ile588_Asn591delinsMetSerMet;Gly593_Leu599delinsAlaThrGlyGlnPro;Glu602_Ala606del;Pro608_Ser610del;Ala612_Thr621delinsGlyGly]
CA2825002706
ENST00000557933.5:c.1764_1775delinsGTCAATGGGGGCAACC