Allele Registry

Canonical Allele Identifier: PA2826216987

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003874

RCV000791454

RCV001195593

RCV002399308

ClinVar Variation:

3688

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gly438Val	CA023553 NM_001195803.2:c.1313G>T