Allele Registry

Canonical Allele Identifier: PA2826216348

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238495

RCV000454858

RCV001191369

ClinVar Variation:

251603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp215Tyr	CA10585255 NM_001195803.2:c.643G>T