Allele Registry

Canonical Allele Identifier: PA2826215716

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238120

RCV001804978

ClinVar Variation:

252246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Thr556Ile	CA10585797 NM_001195800.2:c.1667C>T