Allele Registry

Canonical Allele Identifier: PA2826211230

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237870

ClinVar Variation:

250982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Leu16Pro	CA10584733 NM_001195798.2:c.47T>C