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
ENSP00000453696.2:p.Val347Leu	CA404082804 ENST00000559340.2:c.1039G>C CA404082807 ENST00000559340.2:c.1039G>T