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.Cys336Ser
CA10585321
ENST00000535915.5:c.1007G>C
CA404083611
ENST00000535915.5:c.1006T>A
CA2497030183
ENST00000535915.5:c.1007_1008delinsCT