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.Cys148Ser
CA10584922
ENST00000558013.5:c.443G>C
CA404076472
ENST00000558013.5:c.442T>A