Allele Registry

Canonical Allele Identifier: PA2580170062

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV002721807

ClinVar Variation:

1967129

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Thr363Ile	CA032045 NM_001195798.2:c.1088C>T