Allele Registry

Canonical Allele Identifier: PA645377199

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211615

RCV001037156

RCV002255136

RCV004017503

ClinVar Variation:

226334

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp266Asn	CA10576288 NM_000527.5:c.796G>A