Allele Registry

Canonical Allele Identifier: PA2826216350

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162022

RCV000218676

RCV000238033

RCV000771314

RCV002051667

RCV002381456

ClinVar Variation:

161274

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp215Asn	CA023404 NM_001195803.2:c.643G>A