Allele Registry

Canonical Allele Identifier: PA915999385

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000210827

RCV003741160

ClinVar Variation:

225181

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly335Asp	CA358775 NM_001195798.2:c.1004G>A