Allele Registry

Canonical Allele Identifier: PA2826212329

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003924

RCV000775043

RCV001090451

RCV002336075

ClinVar Variation:

3726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asp134Asn	CA023713 NM_001195799.2:c.400G>A