Allele Registry

Canonical Allele Identifier: PA915998492

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237412

ClinVar Variation:

251262

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asn169Ile	CA10584953 NM_001195798.2:c.506A>T