Allele Registry

Canonical Allele Identifier: PA2826215239

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238388

RCV000775074

ClinVar Variation:

251949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Leu379Pro	CA10585539 NM_001195800.2:c.1136T>C