Allele Registry

Canonical Allele Identifier: PA916000958

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211595

RCV001853404

ClinVar Variation:

226385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys677Phe	CA10576328 NM_001195798.2:c.2030G>T