Allele Registry

Canonical Allele Identifier: PA916000493

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211673

RCV002408916

RCV003581586

ClinVar Variation:

226366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly565Ala	CA10576313 NM_001195798.2:c.1694G>C