Allele Registry

Canonical Allele Identifier: PA2826216024

Gene: LDLR HGNC NCBI

ClinVar Allele:

362690

ClinVar RCV:

RCV000417334

RCV000775604

RCV003477911

ClinVar Variation:

375798

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg110His	CA044568 NM_001195803.2:c.329G>A