Allele Registry

Canonical Allele Identifier: PA645510849

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000508799

RCV000775067

RCV002223855

RCV002383989

ClinVar Variation:

440637

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Leu456Pro	CA305300092 NM_000527.5:c.1367T>C