Allele Registry

Canonical Allele Identifier: PA2826216124

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000172960

RCV001190239

RCV003398872

ClinVar Variation:

189297

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Val144Ile	CA023769 NM_001195803.2:c.430G>A