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
ENSP00000440520.1:p.Thr250Ser	CA404080829 ENST00000535915.5:c.748A>T CA404080844 ENST00000535915.5:c.749C>G