Allele Registry

Canonical Allele Identifier: PA2826212698

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238400

ClinVar Variation:

251494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ile249Ser	CA10585166 NM_001195799.2:c.746T>G