Allele Registry

Canonical Allele Identifier: PA916000500

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003874

RCV000791454

RCV001195593

RCV002399308

ClinVar Variation:

3688

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly565Val	CA023553 NM_001195798.2:c.1694G>T