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.Glu339Asp
CA404083690
ENST00000535915.5:c.1017G>C
CA404083693
ENST00000535915.5:c.1017G>T