Allele Registry

Canonical Allele Identifier: PA2826216701

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000508799

RCV000775067

RCV002223855

RCV002383989

ClinVar Variation:

440637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Leu329Pro	CA305300092 NM_001195803.2:c.986T>C