Allele Registry

Canonical Allele Identifier: PA916000057

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000508799

RCV000775067

RCV002223855

RCV002383989

ClinVar Variation:

440637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Leu456Pro	CA305300092 NM_001195798.2:c.1367T>C