Allele Registry

Canonical Allele Identifier: PA915998952

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238279

ClinVar Variation:

251435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg253Pro	CA10585115 NM_001195798.2:c.758G>C