Allele Registry

Canonical Allele Identifier: PA2826211262

Gene: LDLR HGNC NCBI

ClinVar Allele:

245368

ClinVar RCV:

RCV000237765

RCV000775021

RCV002307470

ClinVar Variation:

251013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Glu31Lys	CA041752 NM_001195798.2:c.91G>A