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.[Val356_His360del;Phe362_Tyr364delinsSerCysSer;Thr366_Gly378delinsLeuHisVal;Asn380_Val382del;Ile384_Ser386del]
CA16602332
ENST00000455727.6:c.1067_1068del