Allele Registry

Canonical Allele Identifier: PA2826213505

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211673

RCV002408916

RCV003581586

ClinVar Variation:

226366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gly524Ala	CA10576313 NM_001195799.2:c.1571G>C