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
ENSP00000453346.1:p.Cys377Ser
CA10585321
ENST00000558013.5:c.1130G>C
CA404083611
ENST00000558013.5:c.1129T>A
CA2497030183
ENST00000558013.5:c.1130_1131delinsCT