Allele Registry

Canonical Allele Identifier: PA915998900

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000182341

RCV000211564

RCV000586018

RCV000826173

RCV002372113

ClinVar Variation:

200920

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Glu240Lys	CA023755 NM_001195798.2:c.718G>A