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
XP_011526313.1:p.Cys250Ser
CA10585321
XM_011528011.1:c.749G>C
CA404083611
XM_011528011.1:c.748T>A
CA2497030183
XM_011528011.1:c.749_750delinsCT