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.Gly294Cys
CA404082719
ENST00000535915.5:c.880G>T
CA3054201316
ENST00000535915.5:c.879_880delinsAT