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.[Thr383_Asn388delinsAsnValIleGln;Ser390_Arg393delinsGluArgLeuGln;Ile395_His401delinsLysGlyHisArgGly;Phe403_Tyr405delinsSerCysSer;Thr407_Pro412delinsLeuHisValLeuAsp]
CA2695228117
ENST00000545707.5:c.1147dup