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
ENSP00000440520.1:p.[Met611_Val612delinsGlySer;Phe614_Thr618delinsPro;Arg621_Glu627delinsHisProAlaLys;Thr629_Leu631del;Asn633_Tyr638delinsGlu;Cys640Val]
CA9204951
ENST00000535915.5:c.1831_1832del