Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000453513.2:p.Thr494Ser	CA404088636 ENST00000560467.2:c.1480A>T CA404088637 ENST00000560467.2:c.1481C>G