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.[Phe760Ser;Cys762_Leu763delinsProGly;Val765_Phe766del;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Thr790delinsAlaAla]
CA16602352
ENST00000535915.5:c.2279_2280del