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
ENSP00000453696.2:p.[Asp227_Phe241delinsGly;Cys243_Cys248del;His250_Asp256del]
CA2573130224
ENST00000559340.2:c.670_679dup