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
ENSP00000454071.1:p.Asp224_Glu228del
CA645373229
ENST00000558518.6:c.669_683delinsAACTGCGGTAAACTGCGGTAAACT
CA658653703
ENST00000558518.6:c.672_686del