Allele Registry

Canonical Allele Identifier: PA645376485

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 251311

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys197Trp	CA10585001 NM_000527.5:c.591C>G