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.[Ile461_Asn464delinsMetSerMet;Gly466_Leu472delinsAlaThrGlyGlnPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Thr494delinsGlyGly]
CA2825002706
ENST00000545707.5:c.1383_1394delinsGTCAATGGGGGCAACC