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
ENSP00000397829.2:p.[Ile420_Asn423delinsMetSerMet;Gly425_Leu431delinsAlaThrGlyGlnPro;Glu434_Ala438del;Pro440_Ser442del;Ala444_Thr453delinsGlyGly]
CA2825002706
ENST00000455727.6:c.1260_1271delinsGTCAATGGGGGCAACC